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Ελένη Μιχελακάκη, B.Sc. Ph.D.

Δ/ντρια της Διεύθυνσης Ενζυμολογίας και Κυτταρικής Λειτουργίας του ΙΥΠ

Σύνοψη βιογραφικού

Η Ελένη Μιχελακάκη σπούδασε Βιοχημεία στο Πανεπιστήμιο του Λονδίνου (Bedford College ;1974-1977 ). Εκπόνησε την διδακτορική της διατριβή με θέμα “Studies on the Factors Involved in the Secretion of Enzymic and non-Enzymic Contents of Rat Liver Lysosomes” στο Τμήμα Ενδογενών Μεταβολικών Νοσημάτων (Division of Inherited Metabolic Disorders) του Κλινικού Κέντρου Ερευνών (Clinical Research Centre), Northwick Park Hospital, στο Λονδίνο, Internal Student στο Πανεπιστήμιο. του Λονδίνου.

1981 : Απονομή του τίτλου του Διδάκτορα της Φιλοσοφίας (Doctor of Philosophy ,
Ph.D.) στη Βιοχημεία του Πανεπιστημίου του Λονδίνου

Μετεκπαίδευση

1979 : Εκπαίδευση στο Workshop της European Molecular Biology Organization που
έγινε στη Χαϊδελβέργη στις εγκαταστάσεις του European Molecular Biology
Laboratory. Θέμα του Workshop ήταν “Membranes and the Cytoskeleton”
περιελάμβανε σειρά διαλέξεων και εργαστηριακή εξάσκηση σε συγκεκριμένες
μεθόδους, που στην περίπτωσή μου ήταν μέθοδοι ανοσοφθορισμού και
ηλεκτρονικού μικροσκοπίου για την μελέτη του κυτταρικού σκελετού.

1981 : Εκπαίδευση στο εργαστήριο ενζυμολογίας του Institute of Child Health στο
Λονδίνο κοντά στον Prof. Patrick σε μεθόδους διάγνωσης Ενδογενών
Μεταβολικών Νοσημάτων.

1988 : Εκπαίδευση στο Pediatric Research Unit του Guy’s Hospital σε τεχνικές
προγεννητικού ελέγχου με τροφοβλάστη.

1989 : Eκπαίδευση στο E.E.C. Practical Course: Biomedical Applications of Genetic
Engineering, Εθνικό Ιδρυμα Ερευνών, Αθήνα.

1994 : Εκπαίδευση στο FEBS Advanced Course: “Diagnostic Laboratory Methods in
Peroxisomal Disorders”, Γάνδη, Βέλγιο.

 

Υποτροφίες

Στη διάρκεια του διδακτορικού μου ήμουν υπότροφος του Mental Health Foundation, U.K.

Επαγγελματική Δραστηριότητα

1981-σήμερα : Εργάζομαι στο Ινστιτούτο Υγείας του Παιδιού και συγκεκριμένα:

  • 1981-1983 : Δ/ντρια υποτομέα Ενζύμων, Σακχάρων κι Αμινοξέων.
  • 1983-1993 : Δ/ντρια Τομέα Ενζυμολογίας και Κυτταρικής Λειτουργίας.
  • 1993-έως σήμερα : Δ/ντρια Διεύθυνσης Ενζυμολογίας και Κυτταρικής Λειτουργίας.

Με την πρόσληψή μου στο Ινστιτούτο Υγείας του Παιδιού, ανέλαβα την ανάπτυξη  και διεύθυνση εργαστηρίου για τη διάγνωση, μελέτη και έρευνα στην στις Σπάνιες Κληρονομικές Παθήσεις και συγκεκριμένα στα Ενδογενή Μεταβολικά Νοσήματα. Η Δ/νση παρέχει μοναδικές εξειδικευμένες υπηρεσίες διάγνωσης, πρόληψης και αναπτύσει ερευνητικές δραστηριότητες στο γνωστικό αντικείμενο των Ενδογενών Μεταβολικών Νοσημάτων.

Εκπαιδευτική Δραστηριότητα

1977-1982 : Σειρά διαλέξεων στους τριτοετείς φοιτητές της Βιοχημείας του Bedford College πάνω στα λυσοσώματα και στον κυτταρικό σκελετό. Συγχρόνως ήμουν υπεύθυνη εργαστηρίου για τους φοιτητές Βιοχημείας του ίδιου κολλεγίου και των τριών ετών.

1982-Σήμερα : Συμμετοχή σε εκπαιδευτικά προγράμματα κλινικών και επιστημονικών εταιρειών με ομιλίες για τα Ενδογενή Μεταβολικά Νοσήματα και τις Σπάνιες Παθήσεις.

Ομιλίες - Σεμινάρια

1982-Σήμερα : Έχω δώσει περισσότερες από 40 ομιλίες σε διεθνείς και εθνικές επιστημονικές συναντήσεις για θέματα που αφορούν στα Ενδογενή Μεταβολικά Νοσήματα και στις Σπάνιες Παθήσεις.

Υπεύθυνη Εκπαίδευσης

Εκπαίδευση σε Εργαστηριακές Τεχνικές Διάγνωσης Ενδογενών Μεταβολικών Νοσημάτων
στη Δ./νση ΕΚΛ των :
Μπίσια Α., απόφοιτος ΤΕΙ (1995)
Ray G., Βιοχημικός, Hospital Infantil H. Notti BuenosAires, Αργεντινή (1998)


Επιτήρηση Διπλωματικών Ερευνητικών Εργασιών :
Κωστομήρη Μ., φοιτήτρια Χημείας ΕΚΠΑ, εκπόνηση Διπλωματκής Εργασίας με τίτλο «Μελέτη της Μετάλλαξης L444P στο γονίδιο GBA, στον Ελληνικό Πληθυσμό» (2005)


Stefan Altun, Φοιτητής Ιατρικής Πανεπιστήμιο Αμστερνταμ, εκπόνηση ερευνητικής εκπαιδευτικής εργασίας με θέμα: ‘Value of surrogate markers of pathological Gaucher Cells for the management of Gaucher disease Patients’. Συνεπιτήρηση με τον καθηγητή H. Aerts,Πανεπιστήμιο Αμστερνταμ (2004)

Άλλες Δραστηριότητες

Ιδρυτικό Μέλος του Συνδέσμου Ιατρικών Γενετιστών Ελλάδος.
Μέλος του Δ.Σ. :1990-1992.


Μέλος της Συντονιστικής Επιτροπής του Ευρωπαϊκού Προγράμματος Concerted Action
on Peroxisomal Leukodystrophies – Biomed II. BMH4CT-1621.


Ιδρυτικό Μέλος του European Working Group on Gaucher Disease (EWGGD)
Μέλος της Συντονιστικής Επιτροπής: 1993-2009 .
Αντιπρόεδρος :2010-2016.


Ιδρυτικό Μέλος της Ελληνικής Εταιρείας Μελέτης των Ενδογενών Μεταβολικών
Νοσημάτων.
Πρόεδρος της Εταιρείας: 2008-2016.
Αντιπρόεδρος :2016 – 2018
Πρόεδρος : 2018- σήμερα


Μέλος του Δ.Σ. της Society for the Study on Inborn Error of Metabolism : 2016-σήμερα.


Εκπρόσωπος της Ελλάδος του ΕRNDIM (European Research Network for evaluation and
improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism).


Εκπρόσωπος της Ελλάδας στην “Cross Border Care Expert Group για τα
Ευρωπαϊκά Δίκτυα Εμπειρογνωμοσύνης.


Μέλος της Ομάδας Εργασίας για την αναμόρφωση του θεσμικού πλαισίου για τα Κέντρα
Αναφοράς και τα Ειδικά Κέντρα.


Μέλος της Ομάδας Εργασίας εξειδίκευσης των κριτηρίων αναγνώρισης των Κέντρων
Εμπειρογνωμοσύνης Σπανίων ή Πολύπλοκων Νοσημάτων.


Μέλος της Εθνικής Επιτροπής για τις Σπάνιες Παθήσεις.

Συμμετοχή σε Ευρωπαϊκά Προγράμματα

Peroxisomal Leukodystrophies Screening Prevention. Treatment and Pathogenesis of Congenital Peroxisomal Diseases. Concerted Action Project Biomed II BMH4CT-1621 (also member of the steering committee of the project).
Euroglycan (European Action on Glycan Defects, QLRT-1999-20047).


Eyroglycanet (Congenital Disorders of Glycosylation: a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders, LSH-CT-2005-512131).


ΟRPHANET – ORPHANET EUROPEAN JOINT ACTION (Εθνική Συντονίστρια) (2011-2014).

Εμπειρία ως Κριτής Εργασιών και Ερευνητικών Προγραμμάτων

Εχω κρίνει εργασίες που έχουν υποβληθεί στα :

  • Acta Haematologica
  • Acta Tropica
  • Cell Biochemistry and Biophysics
  • Clinical Chemistry and Laboratory Medicine
  • Clinica Chimica Acta
  • Current Medical Research and Opinion
  • European Journal Human Genetics
  • FEBS Journal
  • FEBS Open bio
  • Human Mutation
  • Journal of Cellular and Molecular Medicine
  • Journal of Human Genetics
  • Journal Inherited Metabolic Disease
  • Molecular Genetics and Metabolism
  • Neonatology
  • Orphanet Journal of Rare Diseases
  • Plant Biotechnology Journal
  • Rapid Communications in Mass Spectrometry
  • Respiration
  • Archives of Hellenic Medicine (Greek)
  • Iatriki (Greek)
  • Paediatriki (Greek)

Κρίση ερευνητικών Προγραμμάτων


Κριτής του Ερευνητικού Προγράμματος: “Genetic Epidemiology of Gaucher Diseases
submitted to the “United States – Israel Binational Science Foundation” 1996.

Κριτής του Ερευνητικού Προγράμματος: “The possible contribution of mutant glucocerebrosidase to development of Parkinson disease: Studies in tissue culture and animal model” που υπεβλήθη στο Israel Science Foundation, 2013.

Κριτής του Ερευνητικού Προγράμματος:: “Role of red blood cells in Gaucher disease pathophysiology” που  υπεβλήθη στην Vaincre de Maladies Lysosomales, France, 2017.

Μέλος της : International Scientific Evaluation Committee for “E-Rare Joint Translational Call (National representative for Greece), 2009, 2011, 2013, 2014, 2015.


Πρόεδρος της : International Scientific Evaluation Committee for “E-Rare Joint Translational Call, 2011
Αντιπρόεδρος της International Scientific Evaluation Committee for E-Rare JTC2012
driven Young Investigators, 2012


Μέλος της επιτροπής αξιολόγησης : ANR “Investments for the Future” program “Cohorts
2010” (Γαλλία)


Μέλος των επιτροπών κρίσης για:
Miguel Servet Program(young researchers in tenure track) and the ISIS Program(senior outstanding scientists) 2011, 2012 (Ισπανία)

Διοργάνωση Συνεδρίων

Οκτώβριος 1993 : Διοργάνωση της 9ης Συνάντησης Εργασίας του European Study Group on Lysosomal Diseases (ESGLD) Ευρωπαϊκό Πολιτιστικό Κέντρο Δελφών.

Μάϊος 1996 : Διοργάνωση του 1ου Plenary meeting του Concerted Action Program Peroxisomal Leukodystrophies, Αθήνα.

Μάϊος 1997 : Μέλος της Επιστημονικής Επιτροπής της 2ης Συνάντησης εργασίας του European Working Group on Gaucher Disease.

Μάϊος 1998 : Διοργάνωση της Ευρωπαϊκής Συνάντησης Εργασίας με θέμα “Peroxisomal Leukodystrophies”, Aθήνα.

Μάϊος 1999 : Διοργάνωση της 3ης Συνάντησης Εργασίας του European Working Group on Gaucher Disease, Λήμνος.

Σεπτέμβριος 2002: Μέλος της Επιστημονικής Επιτροπής του συμποσίου Peroxisomal Disorders and Regulation of Genes, Γάνδη.

Μάϊος 2004: Μέλος της Επιστημονικής Επιτροπής του 12 ου Διεθνούς Clinical Genetics Seminar on Prenatal Diagnosis, Αθήνα.

Μάρτιος 2005: Local Programme Committee 2 nd Focus course: Protein glycosylation in health and disease,
συνδιοργάνωση Ινστιτούτο Υγείας του Παιδιού. Orphan Europe Academy- Αθήνα.

Μάρτιος 2005: Διοργάνωση του First Euroglycanet meeting, Aθήνα.

Φεβρουάριος 2011: Πρόεδρος της Οργανωτικής Επιτροπής του First International

Symposium: Inborn Errors of Metabolism, Αθήνα.

Ιούνιος 2012: Μέλος Επιστημονικής Επιτροπής της 10 ης Συνάντησης Εργασίας του European Working Group on Gaucher Disease, Παρίσι.

Μάρτιος 2014: Πρόεδρος της Οργανωτικής Επιτροπής του Second International ymposium: Inherited Metabolic Disorders in Adult Neurology, Αθήνα.

Ιούνιος 2014: Μέλος Επιστημονικής Επιτροπής της 11 ης Συνάντησης Εργασίας του European Working Group on Gaucher Disease, Χάϊφα.

Σεπτέμβριος 2018: Πρόεδρος της Οργανωτικής Επιτροπής του Ετήσιου Συμποσίου της Εταιρείας Μελέτης των Ενδογενών ΜεταβολικώνΝοσημάτων (SSIEM). Αθήνα.

Επιστημονικές Εργασίες

Στο Διεθνή Επιστημονικό Τύπο

1. Kirazov, E.P., Michelakakis H. and Lagnado J.R. (1979): Microtubule Associated
Phospholipids. In: Biophysical and Biochemical Information Transfer in Recognition
(Vassileva-Popova J.G. and Jensen E.W. eds) Plennum Press pp 139-145.

2. Michelakakis H. and Danpure C.J. (1979): The Effect of Cytochalasin B on the
Release of Lysosomal Enzymes from Isolated Rat Hepatocytes. Biochem. Soc.
Trans. 7, 1283-1285.

3. Michelakakis H. and Danpure C.J. (1980): The Uptake and Release of Lysosomal
Enzymes by Isolated Perfused Rat Liver. Biochem Soc Trans 8, 569-570.

4. Michelakakis H. and Danpure C.J. (1980): Effect of Cytochalasin B on the Release
of Lysosomal Enzymes from Isolated Perfused Rat. Liver. Cell Biol. Int. Reports 4,
773.

5. Michelakakis H. (1981): Studies on the factors involved in the secretion of enzymic
and non-enzymic contents of rat liver lysosomes. Ph.D. Thesis, University of
London U.K.

6. Michelakakis H., Danpure C.J.(1984): The effect of cytochalasin B on the release of
lysosomal enzymes and intra-lysosomally-stored polyvinyl-pyrrolidone in the
isolated perfused rat liver. Biochem. Pharmacol. 33 (13), 2047-2053.

7. Michelakakis H., Danpure C.J. (1986): The release of intralysosomally stored 125 I-
Triton WR-1339 and lysosomal enzymes from isolated rat liver in the presence and
absence of cytochalasin B. Biochem. Pharmacol.35 (6), 933-938.

8. Michelakakis H., Dimitriou E., Bartsocas Ch., Skardoutsou A., Giouroukos S.
(1990): Metachromatic Leukodystrophy in Greece. Observations on 4 cases. Clin.
Gen. 37, 30-34.

9. Schulpis C., Markosoglou D., Papadelis F., Caraboula A., Giouroukos S.,
Skarpalezou A., Missiou-Tsagarakis S., and Michelakakis H. (1990): Ornithine
Transcarbamylase Deficiency: Findings and Treatment in a symptomatic female
heterozygote. J. Inher Met. Dis. 14, 107-108.

10. Μichelakakis H., Giouroukos S., Divry P., Katsarou E., Rolland M.O. and
Skardoutsou A. (1991): Canavan disease: findings in four new cases. J. Inher.
Metab. Dis. 14, 267268.

11. Apostolidou I., Papagaroufalis C., Michelakakis H., Stephanidis C., and Xanthou
M. (1991): Non-ketotic hyperglycinaemia: a therapeutic approach. J. Inher Metab.
Dis. 14 835-836.

12. Michelakakis H., Karayanni Ch., Dimitriou E., and Bartsocas Ch. (1992):
Phenotypic variability of mannosidosis type II: Report of two Greek cases. Genetic
Counselling 3 (4), 195-199.

13. Schulpis K., Papaconstantinou E.D., Koidou A., Michelakakis H., Tzamouranis J.,
Patsouras A. and Shin A. (1993): UDP-galactose-4-epimerase deficiency in a 5.5
year old girl with unilateral cataract. J. Inher. Met. Dis. 16, 903-904.

14. Michelakakis H., Dellis D., Anastasiadou V. and Bartsocas C. (1993):
Ineffectiveness of captopril in reducing cystine excretion in cystinuric children. J.
Inher. Met. Dis. 16, 1042-1043.

15. Divry P., Jacobs C., Vianey-Sabau C., Gibson K.M., Michelakakis H.,
Papadimitriou A., Divari R., Chabrol B., Cournelle M.A., and Livet MO. (1993): L-2-
Hydroxyglutaric Aciduria: Two Further Cases. J. Inher. Met. Dis. 16, 505-506.
16. Schulpis K.H., Michelakakis H., Charokopos E., Papakonstantinou E.,Messaritakis J. and Shin V. (1993): UDP galactose 4-epimerase in a boy with atrisomy 21. J. Inher. Met. Dis. 16, 1059-1061.

17. Stephanidis C., Michelakakis H., Koulieri A. and Michelis K. (1993): Nutritional
status and growth in children less than 12kg treated with continuous ambularoty
peritoneal dialysis. Peritoneal Dialysis Int. 13, Sup. 12. Selected topics from the
VIth Congress of the International Peritoneal Dialysis, 5251-5253.

18. Bazopoulou-Kyrkanidou E., Vrostos, Kyrkanides S., Tsichlakis K., Tosios K.,
Mandalenaki-Lambrou, Kondyli A., Nassi H., Sarri C., Grigoriadou M. and
Michelakakis H. (1994): Hyperbrachycephaly, short face, midface hypoplasia,
fusion of cervical vertebrae, radiolucent bone defect and severe destruction of
periodontium a new syndrome: craniofactiocervical osteoglyphic dysplasia. Genetic
Counselling 5, 257-267.

19. Michelakakis H., Dimitriou E., Tsagarakis S., Giouroukos S., Schulpis K. and
Bartsocas C.S. (1995): Lysosomal Storage Diseases in Greece. Genetic
Counselling 6 (1), 43-47.

20. Michelakakis H., Papadimitriou A., Divari R., Mavridou J. and Dimitriou E. (1995):
Plasma lysosomal enzyme levels in patients with motor neuron disease. J Inher
Metab. Dis 18, 72-64.

21. Shaag A., Anikster Y., Christensen E., Glustein J.Z., Fois A., Michelakakis H.,
Nigro F., Pronicka E., Ribes A., Zabot M.T. and Elpeleg O.N. (1995): The Molecular
Basis of Canavan (Aspartoacylase Deficiency) Disease in European Non Jewish
Patients. Am. J. Hum. Genet. 57, 572-580.

22. Michelakakis H., Dimitriou E., Van Weely S., Boot R.G., Mavridou I., Verhoek M.
and Aerts J.M.F.G. (1995): Characterization of Glucocerebrosidase in Greek
Gaucher Disease patients: mutation analysis and biochemical studies. J. Inher.
Met. Dis. 18, 609-615.23. Goldenfum S.L., Young E., Michelakakis H., Tsagarakis S. and Winchester B.
(1996): Mutation analysis in 20 patients with Hunter disease. Human Mutation 7,
76-8.

24. Zafeiriou D., Michelakakis H., Anastasiou A., Gombakis N. and Kontopoulos E.
(1996): Serial MRI and Neurophysiological Studies in Late-Infantile Krabbe
Disease. Pediatric Neurology 15, 240-3.

25. Schulpis K., Papakonstantinou E.D., Michelakakis H., Bargeliotis A. and Shin Y.
(1996): Antiatherogenic lipid profile in galactosaemic patients on soybean diets. J.
Inher. Metab. Dis. 19, 91-2.

26. Michelakakis H., Spanou C., Kondyli A., Dimitriou E., Van Weely S., Hollak
C.E.M., Van Oers M.H.J., Aerts J.M.F.G. (1996): Plasma tumor necrosis factor-a
(TNF-a) levels in Gaucher disease. Biochim. Biophys. Acta 1317, 219-22.

27. Schulpis K., Papakonstantinou E.D., Michelakakis H., Podskarbi Th., Patsouras
Ar., Shin Y. (1997): Screening of galactosemia in Greece. Paediatric and Perinatal
Epidemiology 11, 436-40.

28. Zafeiriou D., Anastasiou A., Michelakakis H., Augostidou-Savvopoulou P., Katzos
G., Kontopoulos E. (1997): Early infantile Krabbe disease: deceptively normal
magnetic resonance imaging and serial neurophysiological studies. Brain and
Development 19, 488-91.

29. Holmes H., Burns S. Michelakakis H., Kordoni V., Bain M., Chalmers R., Rafter J.,
Iles R. (1997): Choline and L-carnitine as precursors of trimethylamine. Biochem.
Soc. Trans. 25:2.

30. Michelakakis H., Dimitirou E., Georgakis H., Karabatsos F., Fragodimitri C,
Saraphidou J., Premetis E., Karagiorga-Lagana M. (1997): Iron overload and
urinary lysosomal enzyme levels in β-thalassemia. Eur. J. Pediatr. 156, 602-4.
31. Schulpis K.H., Papakonstantinou E., Michelakakis E., Theodoridis Th.,
Papandreou Ur. and Constantopoulos A. (1998): Elevated serum prοlactin
concentrations in phenylketonuric patients on a «loose diet». Clinical Endocrinology
48, 99-101.

32. Labadaridis J., Dimitriou E., Costalos C., Aerts C.J., Van Weely S., Donker-
Koopman W.E. and Michelakakis H. (1998): Serial chitotriosidase activity
estimations in neonatal systemic candidiasis. Acta Paediatrica 87, 605-6.

33. Zafeiriou D.I., Kontopoulos E., Michelakakis E., Anastasiou A., Gombakis N. and
Katzos G. (1998): Serial Neurophysiological studies and Magnetic resonance
imaging in late-infantile metachromatic leukodystrophy. In: New Developments in
Child Neurology, M.V. Pepat ed. Monduzzi editore International Proceeding
Division, Bologna, 111-15.

34. Sakarelou N., Kosmaidou Z., Mesogitis S., Dimitriou E. and Michelakakis H.
(1999): Pregnancy in Gaucher Disease. Eur. J. Obst. Gynecol. and Reprod. Biol.
83, 113-14.

35. Zafeiriou D, Kontopoulos E, Michelakakis H, Anastasiou A, Gombakis N (1999):
Neurophysiology and MRI in Late-Infantile Metachromatic Leukodystrophy.
Pediatric Neurology, 21, 843-46.

36. Kaloterakis A, Filiotou A, Koskinas J, Raptis J, Zouboulis G, Michelakakis H,
Hatziyannis S (1999): Systemic AL Amyloidosis in Gaucher Disease. A case report
and review of the litterature». J. Intern. Med. 246, 587-90.

37. Labadaridis J, Mavridou I, Sarafidou G, Alexiou N, Costalos C, Michelakakis H.
(2000): Carnitine supplementation and ketogenesis by small-for-date neonates on
medium -and long- chain fatty acid formulae. Biol. Neonate 77, 25-8.

38. Dimitriou E, Kairis M, Sarafidou J, Michelakakis H. (2000): Iron overload and
kidney lysosomes. Biochim. Biophys. Acta 1501, 138-48.

39. Murphy HC, Dolphin CT, Janmohamed A, Holmes HC, Michelakakis H, Spephard
EA, Phillips IR, Iles RA. (2000): A novel mutation in the flavin-containing
monooxygenase 3 gene, FMO fish-odour syndrome: activity of the mutant enzyme
assessed by proton spectroscopy. Pharmacogenetics 10(5), 439-51.

40. Bostantjopoulou S, Katsarou Z, Michelakakis H, Kazis A. (2000): Seizures as a
presenting feature of late onset metachromatic leukodystrophy. Acta Neurol Scan.
102(3), 192-95.

41. Moraitou M., van weely S., Verhoek M., Aerts J., Dimitriou E. and Michelakakis H.
(2001): The facile detection of 1505 G  Ain Gaucher patients with different
phenotypes. Biochim. Biophys. Αcta 1536, 97-102.

42. Paschke E., Milos I., Kreimer-Erlacher H., Hoefler G., Beck M., Hoeltzenbein M.,
Kleijer W., Levade T., Michelakakis H., Radeva B. (2001): Mutation analyses in 17
patients with deficiency in acid beta-galactosidase:three novel point mutation and
high correlation of mutation W273L with Morquio disease type B. Hum Genet,
109(2): 159-66.

43. Delis D., Michelakakis H., Katsarou E. and Bartsocas C.S. (2001): Thiamine-
responsive maple syrup urine disease: Seizures after 7 years of satisfactory
metabolic control. J Inh Met Dis 24: 683-84.

44. Michelakakis H., Skardoutsou A., Mathioudakis J., Moraitou M., Dimitriou
E.,Voudris C. and Karpathios Th. (2002): Early-Onset Severe Neurological
Involvement and D409H Homozygosity in Gaucher Disease: Outcome of Enzyme
Replacement Therapy. Blood Cells Mol. and Dis. 28 (1) 1-4.

45. Schulpis KH, Tjamouranis J, Karikas GA, Michelakakis H, Tsakiris S. (2002): In
vivo effects of high phenylalanine blood levels on Na(+),K(+)-ATPase, Mg(2+).
ATPase activities and biogenic amine concentrations in phenylketonuria. Clin
Biochem 35(4):281-5.

46. Schulpis KH, Karika GA, Tjamouranis J, Michelakakis H., Tsakiris S. (2002):
Acetylcholinesterase Activity and Biogenic Amines in Phenylketonuria. Clin Chem
48, 10:1794-96.

47. Tsakiris S, Schulpis KH, Tjamouranis J, Michelakakis H, Karikas G. (2002):
Reduced acetylcholinesterase activity in erythrocyte-membranes from patients with
phenylketonuria. Clin Biochem 35: 615-19.

48. Papadaki HA, Michelakakis H, Bux J, Eliopoulos GD. (2002): Severe autoimmune
neutropenia associated with bone marrow seablue histiocytosis. Br J Haematol.
111 (4): 931.

49. Zafeiriou DI, Triantafyllou P, Gombakis NP, Vargiami E, Tsantali C, Michelakakis
H. (2003): Niemann-Pick type C disease associated with peripheral neuropathy.
Pediatr Neurol 29 (3):242-4.

50. Fessatou S, Garoufi A, Tsapra H, Maropoulos G, Michelakakis H, Schulpis K
(2003): Late onset ornithine transcarbamylase deficiency: A case report. Pediatr
Pathol Molec Med 22:153-7.

51. Hermans MM, Van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT,
Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J,Bosshard
N, Basel-Vanagaite L, Besley G, Reuser AJJ (2004). Twenty-two novel mutations in
the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype
correlation glycogen storage type II. Hum Mutat 23 (1): 47- 56.

52. Michelakakis HM, Zafeiriou DI, Moraitou MS, Gootjes J, Wanders RJ. (2004):
PEX1 deficiency presenting as Leber congenital amaurosis. Pediatr. Neurol, 31 (2):
146-9.

53. Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H
(2004): Sanfilippo B syndrome: molecular defects in Greek patients. Clin Genet 65:
143-49.

54. Michelakakis H, Dimitriou E and Labadaridis I. (2004): The expanding spectrum of
disorders with elevated plasma chitotriosidase activity: An update J Inher Metab Dis
27:705-706.

55. Schulpis K., Michelalakis H., Tsakiris Th, Tsakiris St. (2005): The effect of diet on
total antioxidant status, erythrocyte membrane Na + , K + -ATPase and Mg 2+ -ATPase
activities in patients with classical galactosaemia. Clin Nutr 24:151-157.

56. Altarescu G, Zimran A, Michelakakis H, Elstein D. (2005): TNF-alpha levels and
TNF-a-gene polymorphism in type I Gaucher disease. Cytokine 31:149-152.

57. Tsakiris S., Michelakakis H & Schulpis K. (2005): Erythrocyte membrane
acetylcholinesterase, Na + , K + -ATPase and Mg 2+ -ATPase activities in patients with
classical galactosaemia. Acta Paediatrica 94:1223-1226.

58. Labadaridis I, Dimitriou E, Theodorakis M, Kafalidis G, Velegraki A, Michelakakis
H. (2005): Chitotriosidase in neonates with fungal and bacterial Infections. Arch Dis
Child Fetal Neonatal Ed 90: 531-532.

59. Lugowska A, Amaral O, Berger J, Berna L, Bosshard N, Chabas A, Fensom
A,Gorovenko G, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer
H, Ol’khovych N, Regis S, Sinke R, Tulki-Szymanska A, Czartoryska B. (2005):
Mutations C459+1 G>A and p.P436L in the ARSA gene: prevalence in
metachromatic leukodystrophy patients from European countries. Mol Genet Metab
86:353-39.

60. Dimitriou E, Verhoek M, Altun S, Karabatsos F, Moraitou M, Youssef J, Boot R,
Sarafidou J, Karagiorga M, Aerts H, Michelakakis H. (2005): Elevated plasma
chemokine CCL18/PARC in β-thalassemia. Blood Cells Mol Dis 35: 328-331.

61. Chalmers R.A., Bain M.D., Michelakakis H., Zschocke J., Iles R.A. (2006):
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J
Inher Metab Dis 29:162-172.

62. Kroos M., Manta P., Mavridou I., Muntoni F., Halley D., Van der Helm R., Zaifeiriou
D, Van der Ploeg A., Reuser A., Michelakakis H. (2006). Seven cases of Pompe
disease from Greece. J Inher Metab Dis 29: 556-563.

63. Michelakakis H., Moraitou M., Dimitriou E., Santamaria R., Sanchez G., Gort L.,
Chabas A., Grinberg D., Dassopoulou M., Fotopoulos S., Vilageliu L. (2006):
Homozygosity for the double D409H + H255Q allele in type II Gaucher Disease. J
Inher Metab Dis 29:591.

64. Labadaridis I, Moraitou M, Theodorakis M, Dimitriou E, Sarafidou J, Michelakakis
H. (2007): Linoleic and Arachidonic acid in Perinatal Asphyxia and Prematurity. J
Matern Fetal Neonate Med 20: 623-626.

65. Louizou E, Michelakakis H, Komianou F, Di Perna M, Biscelia L, Dedoussis G.
(2007): Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria. Hum
Genet 122(2): 214.

66. Fotoulakis M, Schuchman EH, Simonaro CM, Augoustides-Savvopoulou P,
Michelakakis H, Panagopoulou P, Varlamis G, Nousia-Arcanitakis S. (2007). Acid
sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.
J Inherit Metab Dis. 30(6):986

67. Michelakakis H, Kariyannis C, Moraitou M, Dimitriou E, Sarafidou J, Papassotiriou
I. (2007): Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher
disease. J Inherit Metab Dis 30 (5): 822.

68. Zafeiriou D, Vargiami E, Papadopoulou K, Dimitriou E, Mavridou I, Santamaria R,
Canals I, Michelakakis H. (2008): Serial magnetic resonance imaging and
neurophysiological studies in multiple sulphatase deficiency. Eur J of Paed Neurol.
12: 190-194.

69. Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S,
Sanchez-Olli G, Chabas A, Pittis MG, Filocamo M, Vilageliou L, Grinberg D. (2008):
Haplotype Analysis Suggests a Single Balkan Origin for the Gaucher Disease
[D409H;H255Q] Double Mutant Allele. Hum Mut 29:E 58-67.

70. Di Perna M, Louizou E, Fischetti L, Dedoussis GV, Stanziale P, Michelakakis H,
Zelante L, Pras E, Bisceglia L. (2008). Twenty-Four Novel Mutations Identified in a
Cohort of 85 Patients by Direct Sequencing of the SLC3A1 and SLC7A9 Cystinuria
Genes. Genet. Test 12(3); 351-5.

71. Moraitou M, Dimitriou E, Zafeiriou D, Reppa C, Marinakis Th, Sarafidou J,
Michelakakis H. (2008): Plasmalogen levels in Gaucher disease. Blood Cells
Molecules, and Disease 41: 196-199.

72. Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley
D, Reuser A, Baethmann M, Banikazemi M, Van der Beek N, De Join G, Van der
Ploeg A, Bosch A, Byrne B, Charrow J, Clancy JP, Clemens P, Doppler V, Laforet
P, Escolar D, Feigenbaum A, Filocamo M, Gadalla A, Garabedian C, Gray G,
Holmes E, Hwu E-L, Jaffe K, Kishnani P, de Koning T, Wokke J, Leslie N, Lund
AM, Mansson J-Eric, van Maldergem L, Kazue S,Naghashi M, Matthijs G, Mavridou
Ir, Michelakakis H, Muntjewerff N, Nelson P, Nevins M, Pestronk A, Plecko B,
Rake J, Rees P, Rosenbloom B, Smith SA, Storm K, Wuyts W, Tahmasebi S,
Ghaffari SR, Tarnopolsky M, Taylor M, Turnpenny P, Verellen C, Van Hove J,
Wraith Ed (2008): Update of the Pompe Disease Mutation Database with 107
Sequence Variants and a Format for Severity Rating. Hum Mutat 29(6): E13-26.

73. Chatzikyriakidou A, Louizou E, Dedousis G, Biscelia L, Michelakakis H, Georgiou
I. (2008): An overview of SLC3A1 and SCL7A9 mutations in Greek cystinuria
patients. Mol Gen Met 95; 192-193.

74. Michelakakis H, Moraitou M, Mavridou I, Dimitriou E. (2009): Plasma lysosomal
enzyme activities in congenital disorders of glycosylation, galactosemia and
fructosemia. Clin Chim Acta 401; 81-83.

75. Spengos K, Michelakakis H, Vontzalidis A, Zouvelou V, Manta P. (2009): Diabetes
Mellitus Associated with Glycogen Storage Disease Type III. Muscle Nerve, 39;876-
877.

76. Labadaridis I, Moraitou M, Theodoraki M, Triantafillidis G, Sarafidou J,
Michelakakis H. (2009): Plasmalogen levels in full-term neonates. Acta Paed, 98;
640-642.

77. Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou Ir, Nieto M, Pons
M-C.,Skiadas C, Moraitou M, Manta P, Elleder M, Levade T. (2009), Danon
Disease: Further Clinical and Molecular Heterogeneity. Muscle Nerve 39: 837-844.
78. Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, Steinfeld R,
Wraith JE, Michelakakis H, van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky
AV. (2009), Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate
acetyl-CoA: alpha-glycosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat
30 (6): 918-25.

79. Hofer D, Paul K,Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J,
Lugowska A, Michelakakis H, Radeva V, Ramaswami U, Plecko V, Paschke E.
(2009): GM1 gangliosidosis and Morquio B disease: expression analysis of
missense mutations affecting the catalytic site of acid beta- galactoside. Hum Mutat
30 (8): 1214-21.

80. Xaidara A, Karavitakis EM, Kosma E, Emma F, Dimitriou E, Michelakakis H.
(2009): Chitotriosidase plasma activity in nephropathic cystinosis. J Inher Metab Dis
32; 577΄ DOI: 10. 1007/S10545-009-1118-8.

81. Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed
T, Deegan P, van Dussen L, Giraldo P, Mengreli E, Michelakakis H, Manuel J,
Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-
Szymanska A, Zimran A, Cox TM. (2009). Force majeure: therapeutic measures in
response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher
disease. Blood Cells Mol Dis. 15; 44(1): 41-7.

82. Michelakakis H, Dimitriou E, Moraitou M, Valari M, Yatrakou E, Mitsiadi V, Cozar
M, Vilageliu L, Grinberg D, Karachristrou K.(2010). Perinatal lethal form of Gaucher
disease. Clinical and molecular characterization of a Greek case. Blood Cells Mol
Dis. 44 (2): 82-3.

83. Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-
Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J,
Michelakakis H, Di Rocco M, Vellodi A, Zimran A. (2010). Guidelines for the restart
of imiglucerase in patients with Gaucher disease: recommendations from the
European Working Group on Gaucher disease. Blood Cells Mol Dis. 44(2):86-7.

84. Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis B,
Michelakakis H, Plecko B, Paschke E. (2010). Phenotype determining alleles in
GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet. (Epub
ahead of print).

85. Lianou D, Gallego L. Michelakakis H, Perez-Cerda C, Perez B, Ginis S, Jakobs C,
Ugarte M, Desviat LR. (2010): Functional analysis of a novel mutation in the PCCA
gene identified in a late-infantile onset propionic academia patient. Clin Chim Acta,
411: 1388-9.

86. Dimitriou E, Moraitou M, Troungos C, Schulpis K and Michelakakis H.
(2010).Gaucher Disease: frequency of the N370S mutation in the Greek population.
Clin Genet, 78(2): 195-6.

87. Georgouli H., Schulpis KH., Michelakakis H., Kaltsa M., Sdogou T., Kossive L.
(2010): “Persistent coagulopathy during Escherichia coli sepsis in a previously
healthy infant revealed undiagnosed tyrosinemia type 1”. BMJ
88. Papadimas G.K., Terzis G., Methenitis S., Spengos K., Papadopoulos C.,
Vassilopoulou S., Kavouras S., Michelakakis H., Manta P. (2011): Body
composition analysis in late-onset Pompe disease. Mol Genet Metab: 102(1):41-3.

89. Héron B., Mikaeloff Y., Forissart R., Caridade G., Maire I., Caillaud C., Levade T.,
Chabrol B., Feillet F., Ogier H., Valayannopoulos V., Michelakakis H., Zafeiriou D.,
Lavery L., Wraith E., Danos O., Heard J.M., Tardieu M. (2011): Incidence and
natural history of mucopolysaccharidosis type III in France and comparison with
United Kingdom and Greece. Am J Med Genet A 115A(1):58-68.

90. Papadimas G.K., Spengos K., Konstantinopoulos A., Vassilopoulou S., Vontzalidis
A., Papadopoulos C., Michelakakis H., Manta P. (2011): Adult Pompe disease:
Clinical manifestations and outcome of the first Greek patients receiving enzyme
replacement therapy. Clin Neurol Neurosurg 113(4):303-7.

91. Mohamed M., Guillard M., Wortmann S.B., Cirak S., Marklova E., Michelakakis H.,
Korsch E., Adamowicz M., Koletzko B., van Spronsen F.J., Niezen-Koning K.E.,
Matthijs G., Gardeitchik T., Kouwenberg D., Chan Lim B., Zeevaert R., Wevers R.A., Lefeber D.J., Morava E. (2011): “Clinical and diagnostic approach in unsolved
CDG with a type 2 transferrin pattern”. Biochim Biophys Acta 1812: 691-698.

92. Moraitou M.,Hadjigeorgiou G.,Monopolis I.,Dardiotis E.,Bozi M.,Vassilatis
D.,Vilageliu L., Grinberg D., Xiromeritou G., Stefanis L.,Michelakakis H. (2011):”β-
Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic
Parkinson’s disease”.Molec Genet Metab 104:149-52.

93. Michelakakis H., Xiromerisiou G., Dardiotis E., Bozi M., Vassilatis D., Kountra PM.,
Patramani G., Moraitou M., Papadimitriou D., Stamboulis E., Stefanis L., Zintzaras
E., Hadjigeorgiou GM. (2012): “Evidence of an association between the scavenger
receptor class B member 2 gene and Parkinson’s disease” Mov. Disord. 27(3): 400-
5.

94. Kross M., Hoogeveen-Westerveld M., Michelakakis H., Pomponio R., Van der
Ploeg A., Halley D., Reuser A., GAA Database Consortium (2012): “Update of the
pompe disease mutation database with 60 novel GAA sequence variants and
additional studies on the functional effect of 34 previously reported variants”. Hum.
Mutat. 33(8): 1161-5.

95. Moraitou M., Dimitriou E., Mavridou I., Michelakakis H., Georgouli H.. Ploski R.,
Pollak A. (2012): “Tranferrin isoelectric focusing and plasma lysosomal enzyme
activities in the diagnosis and follow-up of hereditary fructose intolerance”. Clin.
Chim. Acta 9;413(19-20): 1714-5.

96. Argyriou A., Dermentzaki G., Papasilekas T., Moraitou M., Stamboulis E., Vekrellis
K., Michelakakis H., Stefanis L. (2012): “Increased dimerization of alpha-synuclein
in erythrocytes in Gaucher disease and aging”. Neuroci. Lett. 24;528(2): 205-9.

97. Caciotti A., Catarzi S., Tonin R., Lugli L. Perez C.R., Michelakakis H., Mavridou I.,
Donati M.A., Guerrini R., d’Azzo A. and Morrone A. (2013): “Galactosialidosis:
review and analysis of CTSA gene mutations”. Orphanet J Rare Dis 8 :114

98. Dermentzaki G, Dimitriou E, Xilouri M, Michelakakis H, Stefanis L.(2013) “ Loss of
β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal
function in neuronal cells”. PLoS One. 2013 Apr 8;8(4): e60674

99. Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E,
Grinberg D, Vilageliu L, Michelakakis H.(2014): “Niemann-Pick type C disease: a
novel NPC1 mutation segregating in a Greek island”. Clin Genet 85(6):543-7.

100. Bozi M, Papadimitriou D, Antonellou R, Moraitou M, Maniati M, Vassilatis DK,
apageorgiou SG, Leonardos A, Tagaris G, Malamis G, Theofilopoulos D,
Kamakari S, Stamboulis E, Hadjigeorgiou GM, AthanassiadouA, MichelakakisH,
Papadimitriou A, Gasser T, Stefanis L.(2014): “Genetic assessment of familial and
early-onset Parkinson’s disease in a Greek population” .Eur J Neurol21(7):963-8

101. Karapanou O, Vlassopoulou B, Tzanela M, Papadopoulos D, Angelidakis P,
Michelakakis H, Ioannidis G, Mihalatos M, Kamakari S, Tsagarakis S.(2014):”X-
linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular
failure”? Hormones (Athens). 13(1):146-52.

102. Moraitou M., Dimitriou E ., Dekker N., Monopolis I., Aerts J., and Michelakakis
H.(2014): “ Gaucher Disease : Plasmalogen levels in Relation to Primary Lipid
Abnormalities and Oxidative Stress”. Blood Cells, Molecules and Diseases. 53(1-
2), 30-33.

103. Serra –Vinardell J., Diaz L, Casas J., Grinberg D., Vilageliu L., Michelakakis H.,
Mavridou I., Aerts J., Decrooocq C., Compain P., and Deglado A.(2014):
“Glucocerebrosidase Enhancers for selected Gaucher Disease Genotypes by
Modification of α-1-C Substituted Imino D-Xylitols (DIXs) By Click Chemistry”.
Chem Med Chem. 9(8), 1744-54.

104. Serra-Vinardell J., Diaz I., Guittierrez-de Teran H., Sanchez-Olle G., Bujons J.,
Michelakakis H., Mavridou I., Aerts J., Delgado A., Grinberg D., Vilageliu L., and
Casas J. .(2014): “Selective Chaperone Effect of Aminocyclitol
DerivativesDisease”. Int. J. Biochem. Cell. Biol. 54, 245-254.

105. Triantafillou P., Economou M., Vlachaki E., Aggelaki M., Athanassiou-MataxaM.,
Michelakakis E., and Zafeiriou D. (2014): “Multiple Endocrine Disorders
Associated with Adrenomyeloneuropathy and a novel Mutation of the ABCD1
Gene”. Pediatric Neurology. 50(6), 622-624.

106. Tsivgoulis G., Papathanasiou M., Krogias C., Kokotis P., Chondrogianni M.,
Liantinioti C., Papageorgiou S., Michelakakis H., and Stefanis L.(2014)
“Neuroimaging Findings in Hunter Disease”. J., Neurol. Sci., 342 (1-2), 200-201.

107. Dimitriou E., Cozar M., Mavridou I., Grinberg D., Vilageliu L., and Michelakakis H.
(2015): “The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular
Findings”. JIMD Rep. 2016;25:57-64

108. Papagiannakis N., Xilouri M., Koros C., Stamelou M., Antonelou R., Maniati M.,
Papadimitriou D., Moraitou M., Michelakakis H., and Stefanis I.(2015):
“Lysosomal Alterations in Peripheral Blood Mononuclear Cells of Parkinson’s
Disease Patients”. Movement Disorders. 30(13), 1830-1834.

109. Moraitou M, Dermentzaki G, Dimitriou E, Monopolis I, Dekker N, Aerts H, Stefanis
I, Michelakakis H. (2016): “α-Synucelin Dimerization in Erythrocytes of Gaucher
Disease Patients: Correlation with Lipid Abnormalities and Oxidative Stress”.
Neurosci Lett. 613:1-5.

110. Jansen J., Timal S., Van Scherpenzeel M., Michelakakis H., Vicogne D., Ashikov
A., Moraitou M., Hoischen A., Huijben K., Steenbergen G, Van den Boogert M.,
Porta F., Calvo P.I., Mavrikou M., Cenacchi G., Van den Bogaart G., SalomonJ.,
Holleboom A., Rodenburg R., Drenth J., Huynen M., Wevers R., Moraval E.,
Foulquier F., Veltman J., Lefeber D.(2016): “TMEM199 Deficiency, a Glycosylation
Disorder with Elevated 1 Aminotransferases, Alkaline Phosphatase and
Hypercholesterolemia”. Am J Hum Genet 98(2):322-30.

111. Kanakis MG., Michelakakis H., Petrou P., Koutsandrea C., Georgalas I.
(2016):“Case report: Aqueous and Vitreous amino-acid concentrations in a patient
with maple syrup urine disease operated on rhegmatogenous retinal
detachment”.BMC Ophthalmol. 16(1):170.

112. Van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M.,
Voit T., Kroos MA., Derks TG., Rubio-Gozalbo ME., Wilemsen MA., Lachmann
RH., Mengel E., Michelakakis H., de Jongste JC., Reuser AJ., van der Ploeg AT.
(2016): “Childhood Pompe Disease : Clinical Spectrum and genotype in 31
patients”. Orphanet J Rare Dis.11(1):65.

113. Laigre E., Hazelard D., Casas J., Serra-Vinardell J., Michelakakis H., Mavridou I.,
Aerts JM., Delgado A., Compain P. (2016): “Investigation of original multivalent
iminosugars as pharmacological chaperones for the treatment of Gaucher
Disease”. Carbohydr Ress.;429:98-104.

114. Vargiami E., Papathanasiou E., Batzios S., Kyriazi M., Dimitriou E., Anastasiou A.,
Michelakakis H., Giese AK., Zafeiriou DI. (2016): “Neuroradiological
neurophysiological and molecular findings in infantile Krabbe disease: two case
reports”. Balkan J Med Genet.;19(1):85-90.

115. Mavridou I., Dimitriou E., Vanier MT., Vilageliu L., Grinberg D., Latour P., Xaidara
A., Lycopoulou L., Bostantjopoulou S., Zafeiriou D., Michelakakis H(2017).: “The
Spectrum of Niemann-Pick Type C Disease in Greece”. JIMD Rep. 36:41-48

116. Stauffert F., Serra-Vinardell J., Gomez-Grau M., Michelakakis H., Mavridou I.,
Grinberg D., Vilageliu L., Casas J., Bodllenner A., Delgado A., Compain P.( 2017):
“Stereodivergent synthesis of right-and left-handed iminoxylitol heterodimers and
monomers. Study of their impact on β-glucocerebrosidase activity”. Org Biomol
Chem.;15(17):3681-3705.

117. Bountouvi E., Papadopoulou A., Vanier M.T., Nyktari G., Kanellakis S.,
Michelakakis H., Dinopoulos A.(2017): “ Novel NPC1 Mutations with Different
Segregation in two related Greek Patients with Niemann-Pick type C disease :
Molecular study in the estended pedigree and clinical correlations”. BMC Med
Genet.; 18(1):51.

118. Pisciotta L., Tozzi G., Travaglini L., Taurisano R., Lucchi T., Indolfi G., Papadia F.,
Di Rocco M., D’Antiga L, Crock P., Vora K, Nightingale S., Michelakakis H.,
Garoufi A., Lykopoulou L., Bertolini S., Calandra S. (2017): “Molecular and Clinical
Characterization of a Series of Patients with Childhool-onset Lysosomal Acid
Lipase Deficiency. Retrospective investigations, follow – up and detections of two
novel LIPA pathogenic variants”.Atherosclerosis. 265:124-132. 22.

119. Stauffert F, Serra- Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I,
Grinberg D, Vilageliu L, Casas J, Bodlenner A, Delgado A, Compain
P.Correction(2017): Stereodivergent synthesis of right- and left-handed
iminoxylitol heterodimers and monomers. Study of their impact on β-
glucocerebrosidase activity.Org Biomol Chem. 15(37):7977.

120. Eleftheriadis T, Makri P, Karakosta P, Pissas G, Liakopoulos V, Michelakakis H,
Hadjigeorgiou GM, Stefanidis I.Late-onset Pompe’s disease in a hemodialysis
patient (2017) : A first case report.Hemodial Int. doi: 10.1111/hdi.12617. [Epub
ahead of print]

121. Papagiannakis N, Koros C, Stamelou M, Simitsi AM, Maniati M, Antonelou R,
Papadimitriou D, Dermentzaki G, Moraitou M, Michelakakis H, Stefanis L. (2017):
Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-
genetic forms of Parkinson’s Disease.Neurosci Lett. doi:
10.1016/j.neulet.2017.11.012. [Epub ahead of print]

122. Simitsi A, Koros C, Moraitou M, Papagiannakis N, Antonellou R, Bozi M,
Angelopoulou E, Stamelou M, Michelakakis H, Stefanis L. (2018):Phenotypic
Characteristics in GBA-Associated Parkinson’s Disease: A Study in a Greek
Population.J Parkinsons Dis.;8(1):101-105. doi: 10.3233/JPD-171

123. van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M,
Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber
DJ.(2019): Toward understanding tissue-specific symptoms in dolichol-phosphate-
mannose synthesis disorders; insight from DPM3-CDG. J Inherit Metab Dis. Mar
31. doi: 10.1002/jimd.12095.

124. Labrijn-Marks I, Somers-Bolman GM, In’t Groen SLM, Hoogeveen- Westerveld M,
Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H,
Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout
HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.(2019) Segmental
and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal
recessive lysosomal disorders: evidence from SNP arrays. Eur J Hum Genet.
Jun;27(6):919-927. doi: 10.1038/s41431- 019-0348-y. Epub 2019 Feb 8.

125. Dimitriou E, Paschali E, Kanariou M, Michelakakis H. (2019): Prevalence of
antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and
Sanfilippo diseases. Mol Genet Metab Rep. 4;20:100477. doi:
10.1016/j.ymgmr.2019.10047.

126. Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou
I, Michelakakis H, Fioravanti A, d’Azzo A, Guerrini R, Morrone A. (2020) Type I
sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-
onset ataxia and myoclonus: An overview. Mol Genet Metab. 129(2):47-58. doi:
10.1016/j.ymgme.2019.09.005.

127. Ravanidis S, Bougea A, Papagiannakis N, Maniati M, Koros C, Simitsi AM, Bozi
M, Pachi I, Stamelou M, Paraskevas GP, Kapaki E, Moraitou M, Michelakakis H,
Stefanis L, Doxakis E. (2020). Circulating Brain-enriched MicroRNAs for detection
and discrimination of idiopathic and genetic Parkinson’s disease. Mov Disord
35(3):457-467. doi: 10.1002/mds.27928.

128. Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M,
Michelakakis H, Prokopiou C, Drousiotou A. (2020). A novel mutation deep within
intron 7 of the GBA gene causes Gaucher disease. Mol Genet Genomic Med
8(3):e1090. doi: 10.1002/mgg3.1090.

129. Michelakakis H.(2020). “Old Roads-New Connections” SSIEM 2018 Annual
Symposium in Athens. J Inherit Metab Dis. 43(1):1. doi: 10.1002/jimd.12212.
(Editorial)

130. Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D,
Mavridou I, Michelakakis H.(2020). Gaucher disease: Biochemical and molecular
findings in 141 patients diagnosed in Greece. Mol Genet Metab Rep 24:100614.
doi: 10.1016/j.ymgmr.2020.100614.

Ανακοινώσεις σε Διεθνή Συνέδρια

1.Kirazov, E.P., Michelakakis H. and Lagnado J.R.: Microtubule Associated
Phospholipids. 2nd International Colloquium on Physical and Chemical Information
Transfer in Regulation of Reproduction and Ageing, Varna, 1977.

2. Michelakakis, H. and Danpure C.J.: The Effect of Cytochalasin B on the Release
of Lysosomal Enzymes from Isolated Rat Hepatocytes. 584th Meeting of the
Biochemical Society, England 1979.

3. Michelakakis H. and Danpure C.J. : The Uptake and Release of Lysosomal
Enzymes by Isolated Perfused Rat Livers. 590th Meeting of the Biochemical
Society, England 1980.

4. Michelakakis H. and Danpure C.J.: Effect of Cytochalasin B on the Release of
Lysosomal Enzymes and Preloaded 125I-PVP from Isolated Perfused Rat Liver.
2nd International Congress on Cell Biology, W. Berlin 1980.

5. Michelakakis, H. and Danpure C.J. : Effect of Cytochalasin B on the Release of
Lysosomal Enzymes from Isolated Perfused Rat Liver. British Soc. of Cell Biology,
Liverpool 1980.

6. Michelakakis H. and Danpure C.J. : The effect of intralysosomally-stored
macromolecules on the cytochalasin B induced release of lysosomal enzymes by
isolated perfused rat liver. 16th Hardeen Conference, Wye 1980.

7. Michelakakis H. and Danpure C.J.: The Effect of Microfilament Disruption on the
Exocytosis of Lysosomal Enzymes and Intralysosomally Stored Non-Degradable
Macromolecules in Isolated Perfused Rat Liver. 2nd Clinical Research Centre
Symposium on the Treatment of Inborn Errors of Metabolism, London 1981.

8. Michelakakis H. and Micheloyanis J. : Biochemical findings at different time
points of valproate treatment. 4th International Child Neurology Congress.
Jerusalem, March 1986.

9. Lambadaridis J., Costalos Ch., Sevastiadou S.,Thalassinos A. and Michelakakis
H.: Plasma and cerebrospinal fluid amino acids in neonates with perinatal anoxia.
26th Annual SSIEM Meeting, Glasgow, September 1988.

10. Michelakakis H., Tsagaraki S., Dimitriou E., Soulpis K.,Giouroukos S.: Lysosomal
Storage Diseases in Greece. Laboratory Experience. 26th Annual SSIEM Meeting,
Glasgow, September 1988.

11. Michelakakis H., Dimitriou E., Bartsocas Ch., Skardoutsou A., Giouroukos S.:
Metachromatic Leukodystrophy in Greece. 5th International Clinical Genetics
Seminar, Rethymno, October 1988.

12. Michelakakis H., Georgakis H., Dimitriou E., Psilla M., Malliarou A., Karaklis A.,
Bastis-Maounis B., Kousparou M., Karagiorga-Lagana M. : Enzymuria in
Thalassemic Patients. International Congress on Thalassemia, Sardinia, April
1989.

13. Dimitriou E. and Michelakakis H. : Metachromatic Leukodystrophy: The 0° degree
assay of white blood cell arylsulphatase A. 22nd Annual Symposium of the
European Society of Human Genetics, Corfu, May 1990.

14. Michelakakis H., Psilla M., Dimitriou E.: Primary and secondary biochemical
findings in Gaucher’s disease. 22nd Annual Symposium of the European Society of
Human Genetics, Corfu, May 1990.

15. Anagnostakou-Koukoudaki M., Michelakakis H., Skouroliakou M.,Sarafidou G.,
Thalassinos A., Papagaroufalis C.,Xanthou M.: Parenteral nutrition and serum
amino acids in premature neonates. XIIth Europ. Congress of Perinatal Medicine,
Lyon 1990.

16. Giouroukos S., Katsarou E., Divry P., Michelakakis H., Rolland M.O and
Skardoutsou A.: N-Acetylaspartate levels and aspartoacylase activity in Canavan’s
disease. ΧΙΧ Meeting of the Middle Eastern and Mediterranean Pediatrics
Societies, Athens 1990.

17. Michelakakis H., Giouroukos S.,Dimitriou E., Tsagarakis S.,Soulpis K., Bartsokas
Ch.: Lysosomal storage diseases in Greece:Nine years of laboratory experience.
ΧΙΧ Meeting of the Middle Eastern and Mediterranean Pediatrics Societies, Athens
1990.

18. Youroukos S., Dimitriou E., Michelakakis H. : Sphingolipidoses in Greece. 18
Reunion Societe Europeenne de Neurologie Pediatrique, December 1990.

19. Stephanidis C.J., Klavdianou M., Papagaroufalis C., Michelakakis H., Xanthou M.:
Peritoneal dialysis in very low birth weight infants. International Workshop of
Neonatal Nephrology, Rome, May 1991.

20. Michelakakis H., Papadimitriou A., Divaris R., Photidou A., Mavridou I., Dimitriou
E.: Plasma Lysosomal Enzyme Levels in Patients with Motor Neuron Disease. 29 th
Annual SSIEM Symposium, London, September 1991.

21. Mylona-Karayanni Ch., Michelakakis H., Dimitriou E., and Bartsocas Ch:
Mannosidosis Type II: Report of two cases. 29th Annual SSIEM Symposium,
London, September 1991.

22. Michelakakis H., Delis D., Anastasiadou V. and Bartsocas Ch.: Effect of captopril
on cystine excretion in cystinuric children. 29th Annual SSIEM Symposium,
London, September 1991.

23. Michelakakis H., Dimitriou E., Georgakis H., Karabatsos F., Premetis E.,
Karagiorga-Lagana M.: Lysosomes in β-Thalassemia Major. 8th Workshop of the
European Study Group on Lysosomal Diseases, Annecy, October 1991.

24. Stefanidis C.J., Michelakakis H., Kapogiannis A., Kousta H., Koulieri A., Michelis
K.: Nutritional status and growth of children less than 12 kg treated with CAPD. VIth
Congress of the Int. Soc. Peritoneal Dialysis, Thessaloniki, October 1992.

25. Michelakakis H., Lambadaridis J., Pataki H., Mavridou I., Alexiou N., Pavlidou D.,
Thalassinos A., Costalos Ch.: Carnitine and MCT supplementation in small for
dates premature neonates. XIIIth European Congress of Perinatal Medicine,
Amsterdam, May 1992.

26. Lambadaridis J., Michelakakis H., Thalassinos A., Costalos Ch.: The effect of
perinatal anoxia on serum and CSF amino acids of premature small for dates
neonates. XIIIth European Congress of Perinatal Medicine, Amsterdam, May 1992.

27. Michelakakis H., Lambadaridis J., Thalassinos A., Costalos C.: Serum and CSF
amino acids in perinatal anoxia. 30th Annual SSIEM Symposium, Leuven,
September 1992.

28. Skardoutsou A., Michelakakis H., Divry P., Christensen E., Schulpis K.: Glutaric
Aciduria type I: report of two cases. 30th Annual SSIEM Symposium, Leuven,
September 1992.

29. Trivli V., Delis D., Michelakakis H., Zabot M.T., Dumoulin R., Bartsocas C.: A
thiamine responsive case of maple syrup urine disease. 30th Annual SSIEM
Symposium, Leuven, September 1992.

30. Papadimitriou A., Michelakakis H., Divari E., Frangos P., Jacobs C., Divry P.:
Encephalopathy associated with 2-hydroxy Glutaric Aciduria. XVth World Congress
of Neurology, Vancouver, September 1993.

31. Dimitriou E. and Michelakakis H.: Biochemical Studies on Gaucher Disease. 9 th
ESGLD Workshop, Delphi, October 1993 and 1st Balkan Meeting of Human
Genetics, Thessaloniki, September 1994.

32. Mavridou E., Pataki H., Young E. and Michelakakis H.: β-Galactosidase
deficiency: biochemical studies. 9th ESGLD Workshop, Delphi, October 1993 and
1st Balkan Meeting of Human Genetics, Thessaloniki, September 1994.

33. Μichelakakis H., Dimitriou E., Tsagarakis S., Giouroukos S., Schulpis K. and
Bartsocas C.: Lysosomal Storage Diseases in Greece. 9th ESGLD Workshop,
Delphi, October 1993.

34. Michelakakis H., Papadopoulou V. and Papavasiliou A.: A case of Juvenile
Sandhoff Disease. 2nd Int. Duodecin Symposium Molecular Biology of Lysosomal
Diseases, Majvik Finland, May 1993.

35. Michelakakis H., Boot R., Dimitriou E., Verhoek M., Van Weely S., Mavridou I. and
Aerts H.: Genotypes of Greek Gaucher Patients. 1st EWGGD Workshop. Trieste,
October 1994.

36. Aerts J.M.F.G., Hollak C.E.M., Boot R.G., Renkema H., Verhoek M., Donker-
Koopman W., Strijland A., Van Weely S., Van Oers M.H.J., Erikson A. and
Michelakakis H. : Abnormalities in chitotriosidase in various Gaucher disease
phenotypes: A diagnostic marker. 1st EWGGD Worskshop, Trieste, October 1994.

37. Gyftodimou Y., Sarri C., Pandelia E., Petersen M.B., Pefanis AG, Michelakakis H.,
Bazopoulou-Kyrkanidou E.: A mentally and somatically retarded man with odd,
progeroid facies, trismus, blepharophimosis, macrotestis, articulo-skeletal
problems, reccurent pericarditis, diabetes mellitus and nephrosis – a new idiopathic
MCA/MR syndrome. 27th Annual Meeting European Society on Human Genetics,
Berlin, May 1995.

38. Burns S.P., Michelakakis H., Kordoni V., Iles R.A. and Chalmers R.A.: Diagnosis
and study of trimethylaminuria using proton magnetic resonance spectroscopy:
simultaneous quantitative measurement of methylamines, trimethylamine – N -oxide
and other metabolites in single analysis. 33rd Annual SSIEM Symposium, Toledo,
September 1995.

39. Shaag A., Anikster Y., Christensen E., Glustein J.Z., Fois A., Michelakakis H.,
Nigro F., Pronicka E., Ribes A., Zabot M.T., Elpeleg O.N.: The molecular basis of
aspartoacylase deficiency in European non-Jewish patients. 33rd Annual SSIEM
Symposium Toledo, September 1995. and 45 th Annual Meeting Amer. Soc. Hum.
Genet. Minneapolis, October 1995.

40. Anikster Y., Shaag A., Christensen E., Glustein J. Z., Fois A., Michelakakis H.,
Nigro F., Pronicka E., Ribes A., Zabot, M. T., Elpeleg O. N. : The molecular basis of
Canavan disease in European non-Jewish patients. Amer. Ped. Soc. and Soc.
Ped. Res. Meeting, San Diego, May 1995.

41. Michelakakis H., Spanou K., Kondyli A., Dimitriou E., Van Weely S., Hollak C.,
Van Oers E., Aerts H.: TNF-a plasma levels in Gaucher and other lysosomal
storage diseases. 10th ESGLD Workshop, Cambridge, September 1995.

42. Michelakakis H., Schutgens R.B.H., Moraitou M., Giftodimou G., Doulgeraki C.
and Wanders R.: Peroxisomal β-oxidation defect associated with enlarged catalase
positive organelles in fibroblasts from a neonate. 33rd Annual SSIEM Symposium,
September 1996.

43. Schulpis K.H., Papakonstantinou E.D., Michelakakis H.: Classical galactosemia
among 199.642 screened newborns in Greece. 4th Asian-European Workshop on
Inborn Errors of Metabolism, Germany, August 1996.

44. Holmes C. H., Burns P.S, Michelakakis H., Chalmers A. R. and Iles A. R.: Choline
and L-carnitine as precursors of trimethylamine. Biochemical Society Meeting No.
659, London, September 1996.

45. Hansen G.M., Riise H.M., Berg. T., Malm D., Michelakakis H., Neou P, Bartsocas
C., Tollersrud O.K. and Nilssen O.: The genetic, biochemical and clinical
characteristics of a Greek patient with α-mannosidosis. 7th International Congress
of Inborn Errors of Metabolism, Austria, May 1997.

46. Zafeiriou D., Anastasiou Al., Michelakakis H., Augoustidou-Savvopoulou P. Katzos
G., Kontopoulos EE.: Early- Infantile Krabbe disease: Deceptively normal magnetic
resonance imaging and serial neurophysiological studies. 7th International
Congress of Inborn Errors of Metabolism, Austria, May 1997.

47. Michelakakis H., Wanders R.J.A., Schutgens R.B.H., Moraitou M., Megaloyanni
E., Kourakis G., Dellagrammaticas H.: Isolated peroxisomal β-oxidation defect in a
neonate. 7th International Congress of Inborn Errors of Metabolism, Austria, May
1997.

48. Milos I., Jauk B, Hofler G., Levade T., Michelakakis H., Kleijer W. and Paschke E.:
Further evidence that mutation W273L is common for the phenotype of Morquio
disease type B. 7th International Congress of Inborn Errors of Metabolism, Austria,
May 1997.

49. Sakarelou N., Kosmaidou Z., Mesogitis S., Kallergis G., Prapa Z., Lyberatou E.,
Dimitriou E., Michelakakis H.: Gaucher’s disease Type I and pregnancy. 1st
European Cytogenetics Conference, Athens, June 1997.

50. Marinakis Th., Repa C., Kokkinou St., Christomanou H., Antypa H., Lymperopoulos
C., Michailides Arg., Michelakakis H.: Aglucerase injection is an efficient therapy
for type 1 Gaucher’s disease: the Greek experience. XIVth Meeting of the
International Society of Haematology, Sweden, August-September 1997.

51. Mavridou I., Dimitriou E., and Michelakakis H.: Response to sucrose loading in
mucolipidosis II and III. 11th ESGLD Workshop Bad Deutsch-Altenburg, September
1997.

52. Michelakakis H., Schutgens R.B.H., Moraitou M., Mavridou I., Dimitriou E. and
Wanders R.J.A.: Peroxisomal leukodystrophies in Greece. 11th ESGLD Workshop,
Bad Deutsch – Altenburg, September 1997.

53. Moraitou M., Dimitriou E. and Michelakakis H.: Iron load and chitotriosidase
activity in rat tissues. 2nd EWGGD Workshop, Maastricht, May 1997.

54. Marinakis Th., Repa C., Kokkinou S., Christomanou H., Antypa H., Lymperopoulos
C., Theodoropoulos B., Michailides A. and Michelakakis H.: Aglucerase therapy
for Gaucher’s disease. Preliminary results in Greek patients. 2nd EWGGD,
Workshop, Maastricht, May 1997.

55. Moraitou M., Wanders R.J.A., Schutgens RBH, Dimitriou E., and Michelakakis H.:
Laboratory investigation of peroxisomal leukodystrophies. 5th Meeting of the
Balkan Clinical Laboratory Federation, Ioannina, October 1997.

56. Dimitriou E., Moraitou M., and Michelakakis H.: Diagnostic significance of plasma
chitotriosidase levels. 5th Meeting of the Balkan Clinical Laboratory Federation,
Ioannina, October 1997.

57. Gyftodimou J., Michelakakis H., Sarri K., Petersen M.B.: Facial features
reminiscent of Kabuki syndrome with normal psychomotor and somatic
development. 8 th European Meeting on Dysmorphology, Strasburg, September
1997.

58. Labadaridis J., Dimitriou E., Costalos Ch, Aerts J., Van Weely S. and Michelakakis
H. : Serial Chitotriosidase Estimations in Neonatal Systemic Candidiasis. XVI
European Congress of Perinatal Medicine, Zagreb, June, 1998.

59. Tsolas G., Labadaridis J., Maire I., Michelakakis H, Avlonitis S., Schulpis K. and
Karis Ch.: DNA Analysis and Pedigree Study in a Greek Case of Glycogen Storage
Disease Ia. International Congress of Pediatrics, Amsterdam, August 1998.

60. Michelakakis H.: The Study of Inherited Metabolic Diseases in Greece. 3rd Balkan
Meeting on Human Genetics, Thessaloniki, August 1998.

61. Michelakakis H., Labadaridis J., Dellagrammaticas D., Gyftodimou Y., Moraitou
M., Wanders R., Schutgens R.: Early onset peroxisomal disorders: Clinical and
biochemical phenotypes in three cases. 36th SSIEM Annual Symposium, York,
September 1998.

62. Papavasiliou S., Sgouromalli U., Stamouli V., Paraskevoulakos V., Bazigou H.,
Michelakakis H.: Neurometabolic testing in developmental delay. 8th International
Child Neurology Congress, Ljubljana, September 1998.

63. Zafeiriou D., Kontopoulos E., Michelakakis H., Anastasiou A., Gombakis N. and
Katzos G.: Serial neurophysiological studies and magnetic resonance imaging in
late-infantile metachromatic leukodystrophy. 8th International Child Neurology
Congress, Ljubljana, September 1998.

64. Iles RA, Murphy HC, Hoomes HC, Dolphin CT, Michelakakis H, Phillips IR,
Shephard EA and Chalmers RA: Diagnosis and therapeutic monitoring using NMR
spectroscopy. 1st International Workshop on Trimethylaminuria NIH, USA, March
1999.

65. Michelakakis H, Moraitou M, Stamoulakatou A, Premetis V, Marinakis Th., Spanou
K., Kolaitis N: Plasmalogen levels in Gaucher disease patients. 3rd EWGGD
Workshop, Lemnos, May 1999.

66. Michelakakis H, Labadaridis J, Dimitriou E, Karis Ch., Marinakis Th., Charokopos
E, Papanikolaou Th, Liakopoulou Th, Syriopoulou V.: Diagnostic Significance of
Chitotriosidase Levels. 3rd EWGGD Workshop, Lemnos May 1999.

67. Marinakis Th., Repa C., Antypa H., Aliferopoulou M., Kokkinou St., Lymperopoulos
C., Theodoropoulos B., Michelakakis H., Michailides A.: Enzyme replacement
therapy for Gaucher’s disease in Greek adult patients: A four years experience. 3rd
EWGGD Workshop, Lemnos, May 1999.

68. Michelakakis H, Beesley C, Moraitou M, Young E, Mavridou I, Winchester B:
Sanfilippo B Disease, Mutations in Greek Patients. 37th SSIEM Annual
Symposium, Genova, September 1999.

69. Michelakakis H, Hermans MMP, Van Leenen D, Mavridou I, Laskari H, Kourkouli
M, and Reuser AJJ: Pompe’s disease. New mutation in a Greek infant.12th ESGLD
Workshop, Vidago-Portugal, September 1999.

70. Mavridou I, Charocopos E, Komianou F, Young L, Jackson M and Michelakakis
H.: Clinical and Biochemical findings in two patients with juvenile galactosialidosis.
12th ESGLD Workshop, Vidago – Portugal,September 1999.

71. Schulpis K., Papakonstantinou E., Shin Y., Michelakakis H. and Mengrelli C.: Pilot
screening for disorders of galactose metabolism in Greece. 4th Meeting of the
International Society for Neonatal Screening, Stockholm, June 1999.

72. Monastirli A., Cariolou M., Michelakakis H., Pasmatzi E., Sakkis Th., Badavanis
G., Georgiou S., Tsambaos D.: Severe from of Anderson-Fabry disease associated
with a new trinucleotide deletion and diffuse facial teleangiectases. 14 th Regional
Conference of Dermatology (Asian – Australasian). Kuala Lumpur, Malaysia, July
2000.

73. Michelakakis H, Moraitou M, Van Weely S, Verhoek M, Aerts H. The facile
detection of R463Q (IVS10-1) mutation in Greek Gaucher disease patients. VIII
International Congress of Inborn Errors of Metabolism, Cambridge, September
2000.

74. Iles RA, Murphy HC, Dolphin CT, Janmohamed A, Holmes JC, Michelakakis H,
Shephard EA, Chalmers RA, Phillips IR.: Characterization and Enzyme Expression
Analysis of FMO3 Mutations in Trimethylaminuria Using Proton NMR Spectroscopy.
VIII International Congress of Inborn Errors of Metabolism, Cambridge, September
2000.

75. Moraitou M, Elpeleg O, Papadakis M, Shaag A, Balassopoulou A, Papapanayotou
E, Michelakakis H.: Prenatal diagnosis of Canavan disease by DNA analysis. 41st
Annual Meeting, ESPR, Rhodes, September 2000.

76. Labadaridis J, Karis Ch, Moraitou M, Theodoraki M, Nikolaidou A, Zossi P,
Michelakakis H.: Plasmalogen levels in neonates. 41st Annual Meeting, ESPR,
Rhodes, September 2000.

77. Labadaridis J., Velegraki A., Dimitriou E., Theodoraki M., Hiza A., Mirmiri D. and
Michelakakis H. : Aspergillus Niger in two VLBW neonates. XVII European
Congress of Perinatal Medicine, Porto, June 2000.

78. Michelakakis H., Skardoutsou A.G., Mathioudakis J., Moraitou M, Dimitriou E.,
Voudris C., Karpathios Th.: Severe Neurological Involvement and D409H
Homozygosity in a Greek Patient. Outcome of ERT. 2 nd International Conference of
Prospects in the Treatment of rare Diseases, Trieste, May 2001 and 1st
International Symposium on Lysosomal Storage Diseases, Seville, April 2001.

79. Maropoulos G., Zaferiou D., Skardoutsou A., Sulpi K., Katsarou E., Augoustides-
Savopoulou P., Michelakakis H., Evaggeliou T., Papadreou O., Drogari E.:
Organic Acids Disorders with Neurological Manifestation. 39 th Annual Symposium
SSIEM, Prague, September 2001.

80. Michelakakis H., Zafeiriou D., Moraitou M., Goutjes J., Vreken P., Wanders R.:
PEX1 Deficiency Misdiagnosed as Leber’s Congenital Amaurosis. 39 th Annual
Symposium SSIEM, Prague, September 2001.

81. Dimitriou E., Moraitou M., Troungos C., Schulpis K. and Michelakakis H.: Gaucher
disease: Frequency of the N370S mutation in the Greek population. 13 th Workshop
ESGLD, The Netherlands, September 2001.

82. Paschke E., Milos I., Hofler G, Kleijer W., Beck M., Michelakakis H., Levade T and
Hoeltzenbein M.: The Pathogenesis of Mucopolysaccharidosis Type IV B and Adult
GM 1- Gangliosidosis. 13 th Workshop ESGLD, The Netherlands, September 2001.

83. Labadaridis I., Dimitriou E., Theodoraki M., Mermiri D., Sawaqed V., Velegraki
A.and Michelakakis H.: Chitotriosidase in neonatal fungal infections. 5 th World
Congress of Perinatal Medicine, Barcelona, September 2001.

84. Voudris K., Skardoutsou A, Bonou P., Katsaloulis M., Vagiakou E., Katsarou E.,
Mavromatis P, Michelakakis E.: Chronic Infantile type of fucosidosis: The first
report from Greece. 7 th Mediterranean Epilepsy Conference, Athens, November
2001,

85. Voudris K., Skardoutsou A., Vagiakou E., Katsaloulis M., Katsarou E., Mavromati
P., Michelakakis E.: An unusual case of Gaucher Disease of Childhood. 7 th
Mediterranean Epilepsy Conference, Athens, Greece, November 2001.

86. Marinakis Th., Repa C., Tsaftaridis P., Fakithari H., Michelakakis H., Kammas A.:
Enzyme replacement therapy for Gaucher disease in Greek adult patients: a seven
years experience. 5 th Workshop of the European Working Group on Gaucher
Disease, Prague, May 2002.

87. Labadaridis I., Moraitou M., Theodoraki M., Dimitriou E., Nikolaidou A., Saouakit J.,
Sarafidou J. and Michelakakis H. Plasmalogen and malondialdehyde levels in full
term neonates. XVIII European Congress of Perinatal Medicine, Oslo, June 2002.
88. Zafeiriou D.I., Triantafyllou P., Gombakis N, Vargiami E., Tsantali C., Michelakakis
E., Vanier M. Niemann-Pick Type C Disease Associated with Peripheral
Neuropathy. 28th Annual Meeting of the Society for Neuropediatrics, 2002.

89. Labararidis I.A., Moraitou M., Theodoraki M., Dimitriou E, Kafalidis G.,Karamatzanis J., Sarafidou J., Michelakakis H. Plasmalogen and malondialdehyde
levels in full term stressed and non stressed neonates. Peroxisomal Disorders and
Regulation of Genes, Ghent, September 2002.

90. Labadaridis I., Theodoraki M., Dimitriou E., Savala M., Velegraki A., Sawaqed
U.,Krali M, Michelakakis H. Chitotriosidase levels in neonatal infections. 21st
Annual Meeting of the European Society for Paediatric Infectious Diseases, Sicily,
April 2003.

91. Beesley C.E., Moraitou M., Winchester B., Schulpis K., Dimitriou E., Michelakakis
H. Sanfilippo B in Greece. 14 th ESGLD Workshop, Podebrady, September 2003.

92. Lugowska A., Tylki-Szymanska A., Amaral O., Berger J., Berna L., Bosshard N.U.,
Fensom A., Lissens W., Marcao A., Michelakakis H., Molzer B., Regis S., Sinke
R.J., Czartoryska B. Prevalence of 459+1G>A and P426L mutations in
Metachromatic leukodystrophy-patients from some European countries. 14 th
ESGLD Workshop, Podebrady, September 2003.

93. Linthorst G.E., Iatrou Ch., Moraitou M., Zorbas S., Mavridou I., Aerts J.M.F.G.,
Michelakakis H. Fabry’s disease: A new mutation in a Greek family. 14 th ESGLD
Workshop, Podebrady, September 2003.

94. Labadaridis I, Theodoraki M, Karigianni E, Papassotiriou I, Michelakakis H. S-
100B in human milk the first week after birth. The 6 th World Congress of Perinatal
Medicine, Osaka September 2003.

95. Fotoulaki M, Michelakakis H, Augoustides-Savvopoulou P, Simonaro CM,
Mavridou I, Nousia-Arvanitakis, Schuchman E. Niemann-Pick Disease Type B: A
novel mutation in a Greek child. Annual Symposium on Lyososomal Storage
Disorders, Madrid, April 2004.

96. Michelalakis H., Kariyannis C., Moraitou M., Dimitriou E., Sarafidou J.,
Papassotiriou I. Serum S-100B levels in X-ALD and Gaucher Disease. SSIEM 41 st
Annual Symposium, Amsterdam, 31 August-3 September 2004.

97. Augoustides-Savvopoulou P., Kambouridou P., Michelakakis H., Kozeis N.,
Tsepkentzis K., Papadopoulos F. : Pseudotumor Cerebri as a presenting symptom
in a neonate with classical galactosemia. SSIEM 41 st Annual Symposium,
Amsterdam, 31 August-3 September 2004.

98. Labadaridis I., Moraitou M., Theodoraki M., Konstandinidou E., Sarafidou J.,
Michelakakis H.: A-Linoleic and Arachidonic acid in perinatal anoxia and
prematurity. XIX European Congress of Perinatal Medicine, Athens, October 2004.

99. Marinakis Th., Repa C., Karkalousos, Michelakakis H. Extended interval between
enzyme therapy infusions for adult patients with Gaucher’s disease type 1. 6 th
European Working Group on Gaucher Disease, Barcelona, October 2004.

100. Marinakis Th., Repa C., Karkalousos P., Tsaftaridis P., Symeonidis A., Kammas A.,
Michelakakis H. Treatment of Gaucher’s disease in Greek adult patients : initial
long term analysis of a collaborative study of enzyme replacement therapy. 6 th
European Working Group of Gaucher Disease, Brcelona, October 2004.

101. Michelakakis H., Dimitriou E., Labadaridis I. The expanding spectrum of disorders
with elevated plasma chitotriosidase activity: an update. 6 th European Working Group
on Gaucher Disease, Barcelona, October 2004.

102. Labadaridis I., Dimitriou E., Theodorakis M., Savala M., Kafalidis G., Velegraki A.,
Michelakakis H. Chitotriosidase Levels in Neonatal Infections. 6 th European Working
Group on Gaucher Disease, Barcelona, October 2004.

103. Dasopoulou M.D., Michelakakis E.M., Baroutis G.D., Loukatou E.G., Covanis A.P.,
Apostolou M.A., Petrou A.S., Tserga O.N., Costalos C.J. Early Onset Severe
Neonatal Phenotype and D409H Homozygosity in Gaucher Disease.2 nd
Mediterranean Congress of Neurology, Nicosia, April 2004.

104. Dasopoulou M.D., Baroutis G.D., Loukatou E.G., Papathoma E.T., Apostolou M.A.,
Michelakakis E.M., Petrou A.S., Tserga O.N., Costalos C.J. Lethal Congenital
Varicella Syndrome; Unusual Neonatal Presentation. 2 nd Mediterranean Congress of
Neurology, Nicosia, April 2004.

105. Dasopoulou M.D., Baroutis G.D., Loukatou E.G., Apostolou M.A., Michelakakis
E.M., Petrou A.S., Tserga O.N., Costalos C.J. Unusual Fatal Neonatal Herpes
Infection. 2 nd Mediterranean Congress of Neurology, Nicosia, April 2004.

106. Gombakis N., Vargiami E., Michelakakis E., Dimitriou E., Moraitou M., Athanasiou-
Metaxa M., Zafeiriou DI. Efficacy of Enzyme Replacement Therapy in Patients with
Gaucher Disease. 2 nd Symposium on Lysosomal Storage Disorders, Athens, March
2005.

107. Gombakis N., Vargiami E., Michelakakis E., Dimitriou E., Moraitou M. Stamouli K.,
Tsantali C., Athanasiou-Metaxa M., Zafeiriou DI. Gaucher Disease: Report of 5
cases. 2 nd Symposium on Lysosomal Storage Disorders, Athens, March 2005.

108. Moraitou M., Dimitriou E., Michelakakis H. Looking for CDG defects in Greece. First
Euroglycanet Meeting, Athens, March 2005.

109. Tsakiris S., Michelakakis H., Tsakiris T. and Schulpis K.H. Low total antioxidant
status is implicated with degradation of erythrocyte membrane protein content in
patients with classical galactosaemia. FEBS – IUBMB Conference, Budapest, July
2005.

110. Michelakakis H., Kroos M., Reuser A., Mavridou I., Manta P. Pompe Disease in
Greece: A study of juvenile and adult cases. SSIEM 42st Annual Symposium, Paris,
September 2005.

111. Labadaridis J., Theodoraki M., Dimitriou E., Spanou K, Sarafidou J, Triantaphyllidis
G., Michelakakis H. Chitotriodisase activity and IL-10 levels in neonatal infections.
46 th meeting European Society for Pediatric Research, Sienna, August 2005.

112. Labadaridis J, Theodoraki M, Kariyanni C, Sarafidou J, Kafalidis G, Thriantafyllidis G,
Papassotiriou J, Michelakakis H. S-100B Levels in Maternal Milk and Modified
Infant and Preterm Formulae. 29 th Umemps Congress, Union of Middle Eastern and
Mediterranean pediatric societies, Instabul, September 2005.

113. Michelakakis H., Moraitou M., Dimitriou E, Santamaria R., Sanchez G., Chabas A.,
Grinberg D. and Vilageliou L. D409 and H255Q homozygosity in type II Gaucher
disease patients. 15 th ESGLD Workshop, Oslo, September 2005.

114. Dimitriou E., Verhoek M., Altun S., Youssef J., Karabatsos F., Boot R., Sarafidou J.,
Karagiorga M., Aerts H., Michelakakis H. Plasma PARC levels in patients with β-
thalassemia major. 15 th ESGLD Workshop, Oslo, September 2005.

115. Garipidou V., Vakalopoulou S., Michelakaki E., Leukou E., Perifanis V. Type 1
Gaucher Disease presenting as an asymptomatic disorder in two Greek Adult
patients. 3 rd Symposium on Lysosomal Storage Disorders, 25 Years of Innovation in
the field of Lysosomal Storage Disorders. Berlin, April 2006.

116. Lianou D., Poulopoulos P, Mavridou I, Kotsonis K., Kassiou K. Michelakakis H.
Infantile Pompe disease – successful short-term results of enzyme replacement
therapy (ERT) . International Symposium, Steps Forward in Pompe Disease, Berlin,
April 2006.

117. Tsina E., Koidou A., Lianou D., Michelakakis H., Mavridou I., Reuser A., Krooss M.,
Paikos P. Night Blindness Due to Juvenile Pompe’s Disease (Type II Glycogenosis).
ARVO Annual Meeting, Florida, April 30- May 4, 2006.

118. Tsekoura E., Panousopoulou C., Michelakakis H., Brown G.K., Anagnostakou M.
Fetal Brain MRI Findings in two cases of pyruvate dehydrogenase deficiency. XX
European Congress of Perinatal and Neonatal Medicine, Prague, May 2006.

119. Siahanidou T., Michelakakis H., Jacobs C., Verhoeven N., Acquaviva C., Mandyla
H. Molybdenum cofactor deficiency in a neonate. XX European Congress of
Perinatal and Neonatal Medicine, Prague, May 2006.

120. Michelakakis H, Dimitriou E, Mavridou I, Tsagarakis S. Mucolysaccharidoses in
Greece. 9 th International Symposium on Mucopolysaccharide and Related Diseases,
Venezia, June 29-July 2, 2006.

121. Niktari G, Skiadas C, Vanier MT, Xini K, Dimitriou E, Mavridou I, Michelakakis H.
“Oral substrate reduction therapy with miglustat in an infantile case of Niemann-Pick
disease type C”. 7 th EWGGD Workshop, Cambridge, July 2006.

122. Labadaridis I, Theodoraki M, Dimitriou E, Spanou K, Sarafidou J, Triantaphyllidis G,
Michelakakis H. “Chitotriosidase activity and IL-10 levels in neonatal infections”. 7 th
EWGGD Workshop, Cambridge, July 2006.

123. Lianou D, Syrengelas D, Poulopoulos P, Klimentopoulou A, Mavridou I,
Michelakakis H. “Early signs of benefit in a child with late-onset Pompe disease
following treatment with enzyme replacement therapy”. 4 th Symposium on Lysosomal
Storage Disorders, Vienna, March 2007.

124. Gombakis N, Vargiami E, Michelakakis E, Dimitriou E, Moraitou M, Tsantili C,
Athanasiou-Metaxa M, Zafeiriou DI. Gaucher disease and enzyme replacement
therapy in patients of northern Greece. 4 th Symposium on Lysosomal Storage
Disorders, Vienna, March 2007.

125. Michelakakis H, Mavridou I, Schuchman E, Manolaki N, Priftis K, Hatzistylianou M,
Pavlou E, Moshou V. Acid sphingomyelinase deficiency: phenotypes of patients
homozygous for W319G. 4 th Symposium on Lysosomal Storage Disorders, Vienna,
March 2007.

126. Papasilekas T, Moraitou M, Michelakakis E, Stefanis L. Alpha-synuclein levels in
Gaucher disease. 17 th Meeting of the European Neurological Society, Rhodes, June
2007.

127. Lianou D, Klimentopoulou A., Poulopoulos P, Syreangelas D. Mavridou I,
Michelakakis H. Pomple disease: Clinical follow-up of two patients on enzyme
replacement therapy (ERT). 25 th International Congress of Pediatrics “for the health
and well-being of our children”, Athens, August 2007.

128. Drogari E, Michelakaki E, Stamboulidis K, Drossatou P, Drakou Ch.
Methylprednisolone pulse therapy in lysinuric protein intolarance and early interstitial
lung disease, a case report. 25 th International Congress of Pediatrics for the health
and well-being of our children”, Athens, August 2007.

129. Michelakakis H, Moraitou M, Dimitriou E, Reppa C, Zafeiriou D, Marinakis T,
Sarafidou J. Red blood cell plasmalogen levels in Gaucher disease, the effect ofERT. SSIEM, Annual Symposium, Society for the Study of Inborn Errors of
Metabolism, Hamburg, September 2007.

130. Caciotti A, Donati MA, Carraresi L, Cavicchi C, Filocamo M, Di Rocco M,
Michelakakis H, Mavridou I, Zammarchi E, Guerrini R, Morrone A. Clinical and
Molecular Findings of Sialidosis Patients with Different Phenotypes. SSIEM, Annual
Symposium, Society for the Study of Inborn Errors of Metabolism, Hamburg,
September 2007.

131. Lianou D, Syrengelas D, Andreou N, Klimentopoulou A, Poulopoulos P, Kapodistrias
K, Mavridou I, Michelakakis H. Enzyme replacement therapy (ERT) for Pompe
disease: the Greek experience in children. SSIEM, Annual Symposium, Society for
the Study of Inborn Errors of Metabolism, Hamburg, September 2007.

132. Hrebicek M, Mrazona L, Majewski J, Morgan Ken, Seyrantepe V, Durand S, Noskova
L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J,
Stranecky V, Michelakakis H, Stuke-Sontheimer A, Steinfelf R, Zeman J,
Pshezhetsky A and Kmoch S. Mutations in TMEM76 are associated with acetyl
coenzyme A: α-glucosaminie N-acetyltransferase deficiency in MPS III C (Sanfilippo
C) patients: an update. 16 th ESGLD Workshop, Perugia, Septermber 2007

133. Michelakakis H, Kroos M, Lourida A, Mavridou I, Reuser A. Classic Infantile Pompe
Disease: A novel mutation. 16 th ESGLD Workshop, Perugia, Septermber 2007

134. Lianou D, Syrengelas S, Poulopoulos P, Kotsonis K, Klimentopoulou A, Mavridou I,
Michelakakis H. Pompe disease: early signs of benefit in a child with late-onset form
following treatment with enzyme replacement therapy (ERT). 7 th European Paediatric
Neurology Society, EPNS Congress, Kusadasi, September 2007.

135. Mavridou I, Moraitou M, and Michelakakis H. Lysosomal enzyme activities in CDGI,
CDGII, galactosemia and fructosemia. 3 rd International Meeting on Congenital
Disorders of Glycosylation, Paris, October 2007 and SSIEM Annual Symposium,
Lisboa, Septermber, 2008.

136. Lianou D, Syrengelas D, Poulopoulos P, Roka K, Mavridou I, Michelakakis H.
Enzyme replacement therapy (ERT) in Pompe disease: an 18-month follow-up in a
child with the late-onset phenotype. 2 nd European Symposium Steps Forward in
Pompe Disease, November 2007

137. Sabourdy F, Michelakakis H, Garcia V, Mavridou I, Nieto M, Pons MC, Anastasakis
A, Stefanadis C, Levade T. Clinical and Molecular characterization of two Greek
cases of Danon disease (Lamp-2 deficiency). Fifth Symposium on Lysosomal
Storage Disorders,Paris,May 2007.

138. Moraitou M, Dimitriou E, Zafeiriou D, Reppa C, Marinakis T, Sarafidou J,
Michelakakis H. Plasmalogen levels in Gaucher disease. 8 th European Working
Group on Gaucher Disease Meeting, Budapest, June 2008.

139. Xaidara A, Karavitakis E, Kosma K, Dimitriou E, Michelakakis H. Chitotriosidase
levels in cystinosis. SSEIM Annual Sumposium, Lisboa, September, 2008.

140. Labadaridis I, Moraitou M, Gyftodimou Y, Dellagramaticas H, Triantafyllidis G,
Wanders R, Michelakakis H. Peroxisomal disorders of the neonatal period. XXI
European Congress of Perinatal Medicine, Istanbul, September 2008.
141. Antoniou X, Michelakakis E, Roussohatzaki M, Ioannidis D, Papavasilliou A.Hyperprolinemia type II. Case report. New Horizons in Pediatric Neurology,
Neurosurgery and Neurofibromatosis, Eilatn, Israel, March 2009.

142. Michelakakis H, Dimitriou E, Moraitou M, Valari M, Talanti V, Mitsiadi V, M. Cozar,
Vilageliu L, Grinberg D, Karachristou K. “Perinatal lethal form of Gaucher disease.
Clinical and molecular characterization of a Greek case”. 17 th ESGLD Workshop,
Βad Honnef/Germany, Septermber 2009.

143. Dimitriou E, Mavridou I, Manta P, Lianou D, Zafeiriou D, Labadaridis I, Michelakakis
H. “Alternative methods for the laboratory diagnosis of Pompe disease”. 17 th ESGLD
Workshop, Βad Honnef/Germany, Septermber 2009.

144. Zafeiriou DI, Vargiami E, Anastasiou A, Ververi A, Michelakakis E, Gombakis N.
“Gaucher disease type III with craniosynosteosis” 8 th Congress of the European
Paediatric Society, U.K., September 2009.

145. Lianou D, Syrengelas D, Garatzioti M, Akritidou I, Brokolaki M, Michelakakis H.
“Pompe Disease: a spectrum of phenotypes. Effect of enzyme replacement therapy
(ERT). 8 th Congress of the European Paediatric Society, U.K., September 2009.

146. Lianou-Trapezanoglou D, Garatzioti M, Syrengelas D, Mavridi I, Michelakakis H.
“Severe and recurrent infusion-associated reactions (IARs) in a patient with infantile-
onset Pompe disease”. 3 rd European Symposium Steps Forward in Pompe Disease,
November 2009, Germany.

147. Michelakakis H, Lianou D, Kroos M, Mavridou I, Dimitriou E, Akritidou I, Syrengelas
D, Reuser A. “Late onset Pompe Disease: novel mutations and response to Enzyme
Replacement Therapy (ERT)”. Biochemical Society Conferences “Lysosomes in
Health & Disease”, May 2010, London, U.K.

148. Labadaridis I, Moraitou M, Dimitriou E, Konstadinidou C, Triantafyllidis G, Monopolis
I, Michelakakis H. “Investigation of oxidative stress in neonates”. XXII European
Congress of Perinatal Medicine, May 2010, Granada, Spain.

149. Michelakakis H., Dimitriou E., Mavridou I., Georgouli H., Ploski R., Pollak
A.,Moraitou M. “Transferrin Isoelectric Focusing and Plasma Lysosomal Enzyme
Activities in the Diagnosis and Follow up of Fructosemia”. Annual Symposium of the
Society for the Study of Inborn Errors of Metabolism, September 2010, Istanbul,
Turkey.

150. Gallego L., Lianou D., Michelakakis H., Perez-Cerda C., Perez B., Ginis S., Jakobs
C., Ugarte M., Desviat LR. “Functional analysis of a novel PCCA mutation with partial
residual activity identified in a late-infantile onset propionic academia patient. Annual
Symposium of the Society for the Study of Inborn Errors of Metabolism, September
2010, Istanbul, Turkey.

151. Moraitou M., Xiromerisiou G., Dardiotis E., Kountra P.S., Gourbali V. I., Stefanis
L., Hadjigeorgiou G. and Michelakakis H. “GBA Mutations and Parkinson’s
Disease”. 9 th International EWGGD Workshop, July 2010, Cologne, Germany.

152. Dimitriou E., Moraitou M., Troungos C., Schulpis K. and Michelakakis H. “The
frequency of the N370S mutation in the Greek population”. 9 th International EWGGD
Workshop. July 2010, Cologne, Germany

153. Moraitou M., Hatzigeorgiou G., Monopolis I., Dardiotis E., Bozi M., Vassilatis D.,
Villageliu L., Grinberg D., Xiromerisiou G., Stefanis L., Michelakakis H. “β-
Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic
Parkinson’s didease”. Annual Symposium of the Society for the Study of Inborn
Errors of Metabolism, August 2011,.

154. Komninaka V., Kolomodi D., Mitropoulou M., Marinakis T. Repa K., Michelakakis H.,
Voskaridou E., Chrostoulas D., Terpos E., “Evaluation of bone marrow involvement
using a semi-quantitative magnetic resonance imaging methods in patients with non-
neuropathic Gaucher diseases”. European Working Group of Gaucher Disease
Meeting, June 2012,.

155. Moraitou M., Dimitriou E., Dekker N., Monopolis I., Aerts H., Michelakakis H.
“Plasmalogen levels and Gaucher disease” Further studies”. European Working
Group of Gaucher Disease Meeting, 2012,

156. Dimitriou E., Moraitou M., Koutouzis E., Lianou D., Syriopoylou V., Michelakakis H.
“Chitotriosidase in Leishmania infection”. Eurpean Working Group of Gaucher
Disease Meeting, 2012,.

157. Komninaka V., Marinakis T., Christoulas D., Repa K., Kolomodi D., Mitropoulou M.,
Gkotzamanidou M., Papatheodorou A., Michelakakis H., Voskaridou E., Dimopoulos
MA., Perpos E. “Increased bone resorption due to high serum C-C motifi Ligand-2
(CCL-3) in present in patients with non-neuronopathic Gaucher Disease”. European
Working Group of Gaucher Disease Meeting. 2012

158. Diaz L., Serra J., Sanchez-Olle G., Grinberg D., Michelakakis H., Mavridou I.,
Delgado A., Bujons J., Casas J., Vilageliu L. “Chaperone effect of several products,
mostly aminocyclitols, on mutated GBAs form Gaucher patients’ fibroblasts”.
European Working Group of Gaucher Disease Meeting, June 2012, Paris, France.

159. Lianou D., Syrengelas D., Andreou N., Chantzopoulos I., Mavridou I., and
Michelakakis H. Pompe Disease (PD): clinical outcome in infants and children
treated with recombinant human acid alpha-glucosidase (rhgaa). 10th EPNS
Congress. 2013. Book of Abstracts (European Journal of Paediatric Neurology).

160. Mavridou I., Cozar M., Douzgou S., Xaidara A., Lianou D., Dimitriou E., Vanier M.T.,
Grinberg D., Vilageliu L., and Michelakakis H. Niemann Pick type C disease: A
novel NPC a greek island. 12th International Congress of Inborn Errors of
Metabolism. 2013. Journal of Inherited Metabolic Disorders. v. 36(Suppl1).

161. Sarra J., Diaz L., Gutierrez de Teran H., Sanchez-Olle G., Bujons J., Michelakakis
H., Delgado A., Grinberg D., Vilageliu L, and Casas J. chaperone effects of new
aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
12th International Congress of Inborn Errors of Metabolism. 2013. Journal of
Inherited Metabolic Disorders. v. 36(Suppl1).

162. Dimitriou E.; Mavridou I.; Cozar M.; Grinberg D.; Vilageliu L., and Michelakakis H. the
spectrum of Krabbe disease in Greece-Laboratory experience. SSIEM. Annual
Symposium of the Society for the Study of inborn errors of metabolism; 2015;
Journal of Inherited Metabolic Disorders. v. 38(Suppl1).

163. Moraitou M.; Dermentzaki G.; Dimitriou E.; Monopolis I.; Dekker N.; Aerts H.;
Stefanis L., and Michelakakis H. a-synuclein dimerization in erythrocytes of gaucher
disease patients in relation to lipid abnormalities and oxidative stress. European
Working Group on Gaucher Disease. 11th Meeting; 2014.

164. Serra-VInardell J.; Casas J.; Vilageliu L.; Michelakakis H.; Mavridou I.; Aerts J.;
Decrooco C.; Compain P.; Delgado P., and Grinberg D. glucocerebrosidase
enchancement in selected Gaucher disease fibroblasts by a series of DIX
compounds. European Human Genetics Conference; 2014. European Journal of
Human Genetics. v. 22(SUPPL1).

165. Pashali V; Dimitriou E.;Moraitou M; Kanariou M; Michelakakis H. Immune
irregularities in lysosomal storage disease patients. SSIEM. Annual Symposium of
the Society for the Study of inborn errors of metabolism; 2015; Journal of Inherited
Metabolic Disorders. v. 38(Suppl1).

166. Van Capelleci; Van der Meijden J C ;Van den Hout J MP; Jaeken J; Baethmann M ;
Voit T ; Kroos M A ; Van Sponsen F J ; Rubio-Gazalbo M E; Willemsen M ;
Lachmann R H ; Mengel E; Michelakakis H; Reuser A J J ; Van der Ploeg A T.
Childhood Pompe disease:clinical spectrum and genotype in 31 children. SSIEM.
Annual Symposium of the Society for the Study of inborn errors of metabolism; 2015;
Journal of Inherited Metabolic Disorders. v. 38(Suppl1).

167. Variami E; Papathanasiou E; Batzios S; Kyriazi M; Michelakakis H; Anastasiou A;
Sidira C; Giese A K;Zafeiriou D.Two further greek cases of Krabbe disease and a
new mutation in GALC gene. European Paediatric Neurology Society Congress;
2015; European Journal of Paediatric Neurology.v.19 (SUPPL1)

168. Jansen J., Timal S., Van Scherpenzeel M., Ashikov A., Jansen E., Wevers R.,
Huynen M., Michelakakis H., Moraitou M., Foulquier F., Veltman J., Stevens T., and
Lefeber D. A novel group of metabolic disorders due to tissue-specific defects in
VATPASE assembly. . SSIEM. Annual Symposium of the Society for the Study of
inborn errors of metabolism; 2016; Journal of Inherited Metabolic Disorders. v.
39(Suppl1).

169. Mavridou I., Dimitriou E., Vanier M., Vilageliu L., Grinberg D., Latour P., Xaidara A.,
Lycopoulou L., Bostantjopoulou S., Zafeiriou D., and Michelakakis H. The spectrum
of NIemann Pick type C disease in Greece. . SSIEM. Annual Symposium of the
Society for the Study of inborn errors of metabolism; 2016; Journal of Inherited
Metabolic Disorders. v. 39(Suppl1).

170. Repa C., Marinakis T, Kourakli A, Zafeiriou D, Tsaftaridis P,Michelakakis H,
Konminaka V, Pappa V, Roussou P, Vlachaki E,Kotsopoulou M, Makis A, Mandala
M, Voskaridou E, Anagnostopoulos N,Symeonidis. A Occurence of neoplastic
diseases and of preneoplastic conditions, among Greek patients with Gaucher
disease. . European Working Group on Gaucher Disease. 12th Meeting, Zaragosa
2016

171. Dimitriou E., Moraitou M., Vilageliu L., Grinberg D., Serra-Jose J., Cozar M.,
Mavridou M., Michelakakis H. Gaucher disease in Greece laboratory investigations.
European Working Group on Gaucher Disease. 12th Meeting, Zaragosa 2016

172. Georgiadou E., Papadakou H., Lefeber D., Van Tol W., Papadopoulos K., Moraitou
M., Papadimas G., Dimitriou E., and Michelakakis H. A New Dmp3-Cdg (Cdg-Io)
Greek Patient. A Hot Spot foo Inborn Errors Of Metabolism ; Athens, 2018. J Inherit
Metab Dis. V. 41(Suppl 1):S192-S193. 2018

173. Malekkou A., Sevastou I., Mavrikiou G., Georgiou T., Vilageliu L., Moraitou M.,
Michelakakis H., Prokopiou C., and Drousiotou A. A Novel Mutation Deep Within
Intron 7 Of The Gba Gene Causes Gaucher Disease . SSIEM. Annual Symposium of
the Society for the Study of Inborn Errors of Metabolism; Athens 2018. J Inherit
Metab Dis. v. 41(Suppl 1):S192. 2018

174. Moraitou M. Papagiannakis N. Dimitriou Ε. Mavridou I., Stefanis L., and
Michelakakis H. A-Synuclein Dimerization in Erythrocytes Of Patients and Carriers
of Sanfilippo Syndrome. SSIEM. Annual Symposium of the Society for the Study of
Inborn Errors Of Metabolism; Athens, Greece. J Inherit Metab Dis. v. 41(Suppl
1):S166. 2018

175. Moraitou M., Sotiroudis G., Dimitriou E., Papagiannakis N., Stefanis L., Xenakis A.
and Michelakakis H. Glucosylceramide Species In Red Blood Cell Membranes of
Gaucher Disease Patients . SSIEM. Annual Symposium of the Society for the Study
of Inborn Errors of Metabolism; Athens 2018. J Inherit Metab Dis. v. 41 (Suppl 1):
S168. 2018

176. Efstathiou Κ Α, Häberle J, Tatouli I P, Rüfenacht V , Papachatzakis I ,Michas F ,
Delavinia C, Mavridou I , Michelakakis H. Citrullinemia type II (CTLN2) : A novel mutation in the first Greek case. SSIEM. Annual Symposium of the Society for the
Study of Inborn Errors Of Metabolism; Athens 2018

177. Moraitou M,Papagianakis N, Dimitriou E, Stefanis L, Michelakakis H: Alpha-
Synuclein dimerization in erythrocytes of Gaucher disease carriers and patients
before and after enzyme replacement therapy. SSIEM. Annual Symposium of the
Society for the Study of Inborn Errors of Metabolism; Rotterdam 2019

178. Moraitou M, Lefeber D, Ashikov A, AbuBakar N, Jaeken J, Michelakakis H:
Experience with congenital disorders of glycosylation in Greece. SSIEM. Annual
Symposium of the Society for the Study of Inborn Errors of Metabolism; Rotterdam
2019

179. Moraitou M., Sotiroudis G., Dimitriou E., Papagiannakis N., Stefanis L., Xenakis A.
and Michelakakis H. Glucosylceramide Species In Red Blood Cell Membranes of
Gaucher Disease Patients and Carriers. European Working Group on Gaucher
Disease. 13th Meeting, Clermont-Ferrand ,2019.

Κεφάλαια σε Βιβλία

1. Μιχελακάκη Ε. (1995): «Αθροιστικά Λυσισωμιακά Νοσήματα.
Υπεροξειδιοσωμιακά Νοσήματα». Τόμος Β’ Νεογνολογία (Κώσταλος Χ.,
Αλεξίου- Κάκκου Ν., Λαμπαδαρίδης Ι., Γούναρης Α., Λιόσης Γ., Συντακτική
Επιτροπή) Ιατρικές εκδόσεις Λίτσας 1055-1066.

2. Μιχελακάκη Ε. (2000): «Διαγνωστική προσέγγιση συνδρόμων μεταφοράς
αμινοξέων». Κληρονομικές παθήσεις των νεφρών (Ζηρογιάννης
ΠΝ,ΑγραφιώτηςΑθ. επιμέλεια έκδοσης) 341-353.

3. Μιχελακάκη Ε. (2001): «Θεραπευτική προσέγγιση της νόσου Fabry. Νεότερα
δεδομένα». Στο: Ο νεφρός στα Συστηματικά Νοσήματα (Ζηρογιάννης ΠΝ Επιμ.
Εκδοσης). Τόμος Β’ 865-867.

4. Μιχελακάκη Ε, Ζηρογιάννης Π.Ν. «Νόσος Fabry». Κλινική Νεφρολογία, Τόμος
ΙΙΙ, Π.Ν. Ζηρογιάννης, Αλκ. Πιερίδης, Αθ. Διαμαντόπουλος, Αθήνα 2005,
Ιατρικές Εκδόσεις Τεχνόγραμμα, σελ. 2004-2418.

5. Michelakakis H and Labadaridis I. Chitinase in fungal and bacterial Sepsis. In
Musumeci S and Paoletti M.G. eds. Bionomium Chitin-Chitinase: Recent Issues
Chapt IV Nova Publishers 2009.