E-LIB Suche - Ergebnisse für: Schwahn, Bernd C.

1

Consensus guidelines for the diagnosis and management of is..:

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease. , 2024

2

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schwahn, Bernd C. ; Berry, Gerard T. ; Santra, Saikat...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107476 , 2023

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

3

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schiff, Manuel ; Schwahn, Bernd C. ; Chabrol, Brigitte...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107475 , 2023

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

4

Molybdenum cofactor deficiency: A natural history:

Spiegel, Ronen ; Schwahn, Bernd C. ; Squires, Liza.
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 456-469 , 2022

Link: https://doi.org/10.1002/..

5

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology. 58 (2022) - p. 102517 , 2022

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

6

Molybdenum Cofactor Disorders:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Schwarz, Guenter ; Schwahn, Bernd C. - p. 593-606 , 2022

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

7

Cystathionine beta synthase deficiency and brain edema asso..:

Schwahn, Bernd C. ; Scheffner, Thomas ; Stepman, Hedwig...
JIMD Reports. 52 (2020) 1 - p. 3-10 , 2020

Link: https://doi.org/10.1002/..

8

Clinical presentation and outcome in a series of 88 patient..:

Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias...
Journal of Inherited Metabolic Disease. 37 (2014) 5 - p. 831-840 , 2014

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

9

Central precocious puberty in a 3 year-old girl with Phenyl..:

Lucaccioni, Laura ; Schwahn, Bernd C ; Donaldson, Malcolm.
BMC Endocrine Disorders. 14 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

10

Timing of Cerebral Developmental Disruption in Molybdenum C..:

Veldman, Alex ; Hennermann, Julia B. ; Schwarz, Guenter...
Journal of Child Neurology. 26 (2011) 8 - p. 1059-1060 , 2011

Link: https://doi.org/10.1177/..

11

Biochemical efficacy of N-carbamylglutamate in neonatal sev..:

Schwahn, Bernd C. ; Pieterse, Louisa ; Bisset, W. Michael..
European Journal of Pediatrics. 169 (2009) 1 - p. 133-134 , 2009

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

12

Expanded newborn screening identifies maternal primary carn..:

Schimmenti, Lisa A. ; Crombez, Eric A. ; Schwahn, Bernd C....
Molecular Genetics and Metabolism. 90 (2007) 4 - p. 441-445 , 2007

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

13

Primary necrotizing lymphocytic central nervous system vasc..:

Moshous, Despina ; Feyen, Oliver ; Lankisch, Petra...
Arthritis & Rheumatism. 56 (2007) 3 - p. 995-999 , 2007

Link: https://doi.org/10.1002/..

14

Infertility in 5,10-Methylenetetrahydrofolate Reductase (MT..:

Kelly, Tamara L.J. ; Neaga, Oana R. ; Schwahn, Bernd C...
Biology of Reproduction. 72 (2005) 3 - p. 667-677 , 2005

Link: https://doi.org/10.1095/..

15

Postnatal cerebellar defects in mice deficient in methylene..:

Chen, Zhoutao ; Schwahn, Bernd C. ; Wu, Qing..
International Journal of Developmental Neuroscience. 23 (2005) 5 - p. 465-474 , 2005

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