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JIMD Reports
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September 2, 2025
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder
Riya Mary Tharakan, Sanjay Rajwal, Bernd C Schwahn
Journal of Inherited Metabolic Disease
|
February 22, 2022
Molybdenum cofactor deficiency: A natural history
Ronen Spiegel, Bernd C Schwahn, Liza Squires, et al.
BMC Endocrine Disorders
|
April 30, 2014
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?
Laura Lucaccioni, Bernd C Schwahn, Malcolm Donaldson, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
|
June 28, 2005
Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase
Zhoutao Chen, Bernd C Schwahn, Qing Wu, et al.
Molecular Genetics and Metabolism Reports
|
July 10, 2024
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Andrew A M Morris, Bernard Cuenoud, Philippe Delerive, et al.
British Journal of Clinical Pharmacology
|
January 22, 2003
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria
Bernd C Schwahn, Dieter Hafner, Thomas Hohlfeld, et al.
Biology of Reproduction
|
November 19, 2004
Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation
Tamara L J Kelly, Oana R Neaga, Bernd C Schwahn, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
March 2, 2013
Osmotic regulation of hepatic betaine metabolism
Lars Hoffmann, Gernot Brauers, Thor Gehrmann, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
Guenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.
The Biochemical Journal
|
June 26, 2004
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency
Bernd C Schwahn, Maurice D Laryea, Zhoutao Chen, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
JIMD Reports
|
September 2, 2025
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder
Riya Mary Tharakan, Sanjay Rajwal, Bernd C Schwahn
Journal of Inherited Metabolic Disease
|
February 22, 2022
Molybdenum cofactor deficiency: A natural history
Ronen Spiegel, Bernd C Schwahn, Liza Squires, et al.
BMC Endocrine Disorders
|
April 30, 2014
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?
Laura Lucaccioni, Bernd C Schwahn, Malcolm Donaldson, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
|
June 28, 2005
Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase
Zhoutao Chen, Bernd C Schwahn, Qing Wu, et al.
Molecular Genetics and Metabolism Reports
|
July 10, 2024
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Andrew A M Morris, Bernard Cuenoud, Philippe Delerive, et al.
British Journal of Clinical Pharmacology
|
January 22, 2003
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria
Bernd C Schwahn, Dieter Hafner, Thomas Hohlfeld, et al.
Biology of Reproduction
|
November 19, 2004
Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation
Tamara L J Kelly, Oana R Neaga, Bernd C Schwahn, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
March 2, 2013
Osmotic regulation of hepatic betaine metabolism
Lars Hoffmann, Gernot Brauers, Thor Gehrmann, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
Guenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.
The Biochemical Journal
|
June 26, 2004
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency
Bernd C Schwahn, Maurice D Laryea, Zhoutao Chen, et al.
Page
of 3