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Morava, E.
164  results:
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1

Assessing age of onset and clinical symptoms over time in p..:

Muffels, I. J. J. ; Sadek, M. ; Kozicz, T..
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Patient reported outcomes for phosphomannomutase 2 congenit..:

Pascoal, C. ; Ferreira, I. ; Teixeira, C....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Free virtual issue: novel paradigms for in inborn errors wi..:

Morava, E. ; Jacques, T. S.
Neuropathology and Applied Neurobiology.  46 (2020)  6 - p. 517-518 , 2020
Link: https://doi.org/10.1111/..
 
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4

The challenge of CDG diagnosis:

Francisco, R. ; Marques-da-Silva, D. ; Brasil, S....
Molecular Genetics and Metabolism.  126 (2019)  1 - p. 1-5 , 2019
Link: https://doi.org/10.1016/..
 
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5

Infantile Alexander disease with late onset infantile spasm..:

Paprocka, J ; Rzepka-Migut, B ; Rzepka, N..
Balkan Journal of Medical Genetics.  22 (2019)  2 - p. 77-82 , 2019
Link: https://doi.org/10.2478/..
 
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6

Keeping an eye on congenital disorders of O-glycosylation: ..:

Francisco, R. ; Pascoal, C. ; Marques-da-Silva, D....
Journal of Inherited Metabolic Disease.  , 2018
Link: https://doi.org/10.1007/..
 
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7

A new opportunity: metabolism and neuropsychiatric disorder:

Kozicz, Tamas ; Morava, E.
Journal of Inherited Metabolic Disease.  41 (2018)  4 - p. 583-584 , 2018
Link: https://doi.org/10.1007/..
 
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8

Unique presentation of cutis laxa with Leigh‐like syndrome ..:

Balasubramaniam, S. ; Riley, L. G. ; Bratkovic, D....
Journal of Inherited Metabolic Disease.  40 (2017)  5 - p. 745-747 , 2017
Link: https://doi.org/10.1007/..
 
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9

Clinical and paraclinical features of phosphoglucomutase ty..:

Souvannanorath, S. ; Laforêt, P. ; Bruneel, A....
Neuromuscular Disorders.  25 (2015)  - p. S221 , 2015
Link: https://doi.org/10.1016/..
 
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10

Suboptimal mitochondrial function in depression:

Emmerzaal, T.L. ; Geenen, B. ; Scott, K....
Mitochondrion.  24 (2015)  - p. S27 , 2015
Link: https://doi.org/10.1016/..
 
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11

Thrombotic complications in patients with PMM2-CDG:

Linssen, M. ; Mohamed, M. ; Wevers, R.A...
Molecular Genetics and Metabolism.  109 (2013)  1 - p. 107-111 , 2013
Link: https://doi.org/10.1016/..
 
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12

Cutis Laxa:

, In: Brenner's Encyclopedia of Genetics,
Gardeitchik, T. ; Morava, E. - p. 254-257 , 2013
Link: https://doi.org/10.1016/..
 
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13

Abnormal fat distribution in PMM2-CDG:

Wolthuis, D.F.G.J. ; van Asbeck, E.V. ; Kozicz, T..
Molecular Genetics and Metabolism.  110 (2013)  3 - p. 411-413 , 2013
Link: https://doi.org/10.1016/..
 
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14

O19 – 1664 Succinyl-CoA ligase deficiency: report on the fi..:

Zafeiriou, DI ; Batzios, S ; Vargiami, E...
European Journal of Paediatric Neurology.  17 (2013)  - p. S6-S7 , 2013
Link: https://doi.org/10.1016/..
 
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15

Otological aspects and surgical outcome in a consanguineous..:

Thomeer, H.G.X.M. ; Morava, E. ; Verbist, B.M..
International Journal of Pediatric Otorhinolaryngology.  77 (2013)  7 - p. 1152-1157 , 2013
Link: https://doi.org/10.1016/..
 
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