E-LIB Suche - Ergebnisse für: Wortmann, S.B

1

Multidisziplinäre Diagnostik von Entwicklungsstörungen: Gru..:

Wortmann, S. B. ; Preisel, M. ; Feichtinger, R. G....
Monatsschrift Kinderheilkunde. 169 (2021) 9 - p. 815-827 , 2021

Link: https://doi.org/10.1007/..

2

Molekulare Medizin: Pathobiochemie als Schlüssel zur person..:

Mayr, J. A. ; Feichtinger, R. G. ; Achleitner, M. T....
Monatsschrift Kinderheilkunde. 169 (2021) 9 - p. 828-836 , 2021

Link: https://doi.org/10.1007/..

3

Chorioretinale Atrophie bei kindlichem zerebralem Folatmang..:

Kakkassery, V. ; Koschmieder, A. ; Walther, F....
Der Ophthalmologe. 118 (2020) 4 - p. 383-390 , 2020

Link: https://doi.org/10.1007/..

4

Angewandte Genetik in der Pädiatrie:

Wortmann, S. B. ; Duba, H.‑C.
Monatsschrift Kinderheilkunde. 166 (2018) 9 - p. 774-784 , 2018

Link: https://doi.org/10.1007/..

5

Growth in patients with mucopolysaccharidosis type III (San..:

de Ruijter, J. ; Broere, L. ; Mulder, M. F....
Journal of Inherited Metabolic Disease. 37 (2013) 3 - p. 447-454 , 2013

Link: https://doi.org/10.1007/..

6

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/..

7

Fieber, Schüttelfrost und schwarze Finger:

Wortmann, S.B. ; Mitchell, A. ; Ruzhensova, U...
Monatsschrift Kinderheilkunde. 159 (2011) 7 - p. 612-615 , 2011

Link: https://doi.org/10.1007/..

8

Glycosylation defects underlying fetal alcohol spectrum dis..:

Binkhorst, M. ; Wortmann, S. B. ; Funke, S....
Journal of Inherited Metabolic Disease. 35 (2011) 3 - p. 399-405 , 2011

Link: https://doi.org/10.1007/..

9

3-Methylglutaconic aciduria type I redefined: A syndrome wi..:

Wortmann, S.B. ; Kremer, B.H. ; Graham, A....
Neurology. 75 (2010) 12 - p. 1079-1083 , 2010

Link: https://doi.org/10.1212/..

10

Substrate deprivation therapy in juvenile Sandhoff disease:

Wortmann, S. B. ; Lefeber, D. J. ; Dekomien, G....
Journal of Inherited Metabolic Disease. 32 (2009) S1 - p. 307-311 , 2009

Link: https://doi.org/10.1007/..

11

Prenatal diagnosis of cerebral lesions in Tuberous sclerosi..:

Wortmann, S.B. ; Reimer, A. ; Creemers, J.W.T..
European Journal of Paediatric Neurology. 12 (2008) 2 - p. 123-126 , 2008

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

12

Early cardiac involvement in children carrying the A3243G m..:

Wortmann, S B ; Rodenburg, R J ; Backx, A P...
Acta Paediatrica. 96 (2007) 3 - p. 450-451 , 2007

Link: https://doi.org/10.1111/..

13

Early cardiac involvement in children carrying the A3243G m..:

Wortmann, S.B. ; Rodenburg, R. ; Hol, F...
Mitochondrion. 6 (2006) 5 - p. 19 , 2006

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

14

Biochemical characteristics and increased tetraglucoside ex..:

Morava, E. ; Wortmann, S. B. ; van Essen, H. Zweers...
Journal of Inherited Metabolic Disease. 28 (2005) 5 - p. 703-706 , 2005

Link: https://doi.org/10.1007/..

15

The natural history of classic galactosemia: lessons from t..:

Rubio-Gozalbo, M.E. (Estela) ; Haskovic, M ; van den Bosch, A.M...
http://repub.eur.nl/pub/116995. , 2019

Link: http://repub.eur.nl/pub/..