Work

Hyperphenylalaninemia and 7-Pterin Excretion Associated with Mutations in 4a-Hydroxy-tetrahydrobiopterin Dehydratase/DCoH: Analysis of Enzyme Activity in Intestinal Biopsies

Year: 2000

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1006/mgme.2000.3016

Authors: J.E. Ayling, S.W. Bailey, S.R. Boerth, R. Giugliani, C.P. Braegger, B. Thöny, N. Blau

Institutions: University of South Alabama, Hospital de Clínicas de Porto Alegre, University Children's Hospital Zurich

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke

Awards: TETRAHYDROPTERIN TREATMENT FOR NEUROLOGICAL DISORDERS, G8380313507

OpenAlex ID: W2078128345

FWCI: 0.18

Cites: 39

Cited by: 10

Related to: 10