F. Neuheiser

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.

Christoph Hauer, Igor Rebrin, Beat Thöny et al. · Journal of Biological Chemistry · 1993 · 71 citations · Full text

Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)

Beat Thöny, F. Neuheiser, L. Kierat et al. · The American Journal of Human Genetics · 1998 · 53 citations · Full text

Biochemistry, Pcbd Gene Encoding, Natural Sciences +7

Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia

Beat Thöny, F. Neuheiser, L. Kierat et al. · Human Genetics · 1998 · 38 citations

Benign Form, Biochemistry, Natural Sciences +6

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

A. Niederwieser, B Steinmann, Ulrich Exner et al. · PubMed · 1983 · 35 citations

Ventricular Fibrillation, Biochemistry, Transient Metabolic Acidosis +14

Characterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α

Beat Thöny, F. Neuheiser, Nenad Blau et al. · Biochemical and Biophysical Research Communications · 1995 · 21 citations

Transcriptional Regulation, Protein Function, Biochemistry +7