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Michelakakis, H.
84
results:
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Online (84)
Mediatypes
Articles (Online) (57)
OpenAccess-fulltext (27)
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1
Patient centered guidelines for the laboratory diagnosis of..:
Dardis, A.
;
Michelakakis, H.
;
Rozenfeld, P.
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
2
Mitochondrial neurogastrointestinal encephalomyopathy: Clin..:
Paisiou, A.
;
Rogalidou, M.
;
Pons, R.
...
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100829 , 2022
Link:
https://doi.org/10.1016/..
?
3
Late diagnosis of arginaemia in a young man presenting with..:
Zafeiriou, D.
;
Kyriazi, M.
;
Vargiami, E.
...
European Journal of Paediatric Neurology. 21 (2017) - p. e132-e133 , 2017
Link:
https://doi.org/10.1016/..
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4
Childhood Pompe disease: clinical spectrum and genotype in ..:
van Capelle, C. I.
;
van der Meijden, J. C.
;
van den Hout, J. M. P.
...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
?
5
Neuroradiological, neurophysiological and molecular finding..:
Vargiami, E
;
Papathanasiou, E
;
Batzios, S
...
Balkan Journal of Medical Genetics. 19 (2016) 1 - p. 85-90 , 2016
Link:
https://doi.org/10.1515/..
?
6
Childhood Pompe disease: Clinical spectrum and genotype in ..:
van Spronsen, F.
;
Jaeken, J.
;
Rubio-Gozalbo, M.
...
Neuromuscular Disorders. 25 (2015) - p. S190 , 2015
Link:
https://doi.org/10.1016/..
?
7
PP03.13 – 2568: Two further Greek cases of Krabbe disease a..:
Vargiami, E.
;
Papathanasiou, E.
;
Batzios, S.
...
European Journal of Paediatric Neurology. 19 (2015) - p. S40 , 2015
Link:
https://doi.org/10.1016/..
?
8
Highlighting intrafamilial clinical heterogeneity in late-o..:
Papadopoulos, C.
;
Papadimas, G.K.
;
Michelakakis, H.
..
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 2-4 , 2014
Link:
https://doi.org/10.1016/..
?
9
Genetic assessment of familial and early‐onset Parkinson's ..:
Bozi, M.
;
Papadimitriou, D.
;
Antonellou, R.
...
European Journal of Neurology. 21 (2013) 7 - p. 963-968 , 2013
Link:
https://doi.org/10.1111/..
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10
Niemann–Pick type C disease: a novel NPC1 mutation segregat..:
Mavridou, I.
;
Cozar, M.
;
Douzgou, S.
...
Clinical Genetics. 85 (2013) 6 - p. 543-547 , 2013
Link:
https://doi.org/10.1111/..
?
11
P287 – 1966 Pompe disease (PD): clinical outcome in infants..:
Lianou, D
;
Syrengelas, D
;
Andreou, N
...
European Journal of Paediatric Neurology. 17 (2013) - p. S132 , 2013
Link:
https://doi.org/10.1016/..
?
12
P05.15 A case of a-mannosidosis: A rare lysosomal disease:
Vargiami, E.
;
Batzios, S.P.
;
Anastasiou, A.
..
European Journal of Paediatric Neurology. 15 (2011) - p. S53 , 2011
Link:
https://doi.org/10.1016/..
?
13
Adult Pompe disease: Clinical manifestations and outcome of..:
Papadimas, G.K.
;
Spengos, K.
;
Konstantinopoulou, A.
...
Clinical Neurology and Neurosurgery. 113 (2011) 4 - p. 303-307 , 2011
Link:
https://doi.org/10.1016/..
?
14
Clinical and diagnostic approach in unsolved CDG patients w..:
Mohamed, M.
;
Guillard, M.
;
Wortmann, S.B.
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1812 (2011) 6 - p. 691-698 , 2011
Link:
https://doi.org/10.1016/..
?
15
Body composition analysis in late-onset Pompe disease:
Papadimas, G.K.
;
Terzis, G.
;
Methenitis, S.
...
Molecular Genetics and Metabolism. 102 (2011) 1 - p. 41-43 , 2011
Link:
https://doi.org/10.1016/..
1-15