Work

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias

Year: 1994

Type: article

Source: Journal of Inherited Metabolic Disease

DOI: 10.1007/bf00712004

Authors: P. Guldberg, H. L. Levy, R. Koch, C. M. Berlin, B. Francois, K. F. Henriksen, F. Güttler

Institutions: Kennedy Center, Harvard University, Children's Hospital Los Angeles, Penn State Milton S. Hershey Medical Center

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: G4867673107

OpenAlex ID: W2066626477

FWCI: 0.997

Cites: 27

Cited by: 23

Related to: 10