Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the <i>PCBD</i> Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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)

Authors:	Beat Thö ny,Frank Neuheiser,Lucja Kierat,Milan Blaskovics,Pamela H. Arn,Patrick Ferreira,Igor Rebrin,June Ayling,Nenad Blau

Affiliation:	¹Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Zurich;;²Kaiser Permanente Regional Metabolic Laboratory, North Hollywood, California;;³The Nemours Children's Clinic, Jacksonville, Florida;;⁴Edmonton Genetics Clinic, University of Alberta Hospitals, Edmonton;⁵Department of Pharmacology, College of Medicine, University of South Alabama, Mobile

Abstract:

Keywords:
本文献已被 ScienceDirect 等数据库收录！