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Morava, E.
164
results:
Search for persons
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Online (164)
Mediatypes
Articles (Online) (84)
Bookchapter (Online) (2)
OpenAccess-fulltext (78)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
12
Cutis Laxa:
, In:
Brenner's Encyclopedia of Genetics
,
Gardeitchik, T.
;
Morava, E.
- p. 254-257 , 2013
Link:
https://doi.org/10.1016/..
?
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/..
?
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/..
?
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/..
1-15