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Publications by Beat Thöny

Enhancement of Hepatic Autophagy Increases Ureagenesis and Protects Against Hyperammonemia

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2017English

Mildly Compromised Tetrahydrobiopterin Cofactor Biosynthesis Due to PTS Variants Leads to Unusual Body Fat Distribution and Abdominal Obesity in Mice

Journal of Inherited Metabolic Disease
Genetics
2016English

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2020English

Identification of Pharmacological Chaperones as Potential Therapeutic Agents to Treat Phenylketonuria

Journal of Clinical Investigation
Medicine
2008English

Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
1995English

Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting With Neurotransmitter Deficiency Without Hyperphenylalaninemia

2002English

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