E-LIB Suche - Ergebnisse für: Michelakakis, H.

1

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/..

2

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/..

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/..

4

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/..

5

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/..

6

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/..

7

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/..

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

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/..

10

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/..

11

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/..

12

P05.8 A case of galactosialidosis with renal failure and hi..:

Zafeiriou, D. ; Papachristou, F. ; Ververi, A....
European Journal of Paediatric Neurology. 15 (2011) - p. S51 , 2011

Link: https://doi.org/10.1016/..

13

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/..

14

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/..

15

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/..