Work

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Year: 2011

Type: review

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2011.08.017

Authors: Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck, Uta Lichter-Konecki

Institutions: University Children's Hospital Zurich, Charité – Universitätsmedizin Berlin, University Hospital Frankfurt, Children's National, George Washington University

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: green

Funders: National Science Foundation, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Serono Symposia International Foundation

Awards: Biochemistry and neuropathophysiology of tetrahydrobiopterin metabolism and deficiencies, G544591541

OpenAlex ID: W2094784564

FWCI: 1.751

Cites: 57

Cited by: 275

Related to: 10