Work

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

Year: 2009

Type: article

Study design: Observational Study

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2009.37

Authors: Steven F Dobrowolski, K Borski, C C Ellingson, R Koch, H L Levy, E W Naylor

Institutions: University of Utah, Poznan University of Medical Sciences, Penn State Milton S. Hershey Medical Center, University of Southern California, Boston Children's Hospital

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

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: G4282253853

OpenAlex ID: W2099095217

FWCI: 1.704

Cites: 32

Cited by: 20

Related to: 10