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Schwahn, Bernd C
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1

Long-term use of investigational β-Hydroxybutyrate salts in..:

Morris, Andrew A.M. ; Cuenoud, Bernard ; Delerive, Philippe..
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101104 , 2024
Link: https://doi.org/10.1016/..
 
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2

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

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 598-623 , 2024
Link: https://doi.org/10.1002/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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