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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

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Year: 2008
Type: article
Source: Journal of Inherited Metabolic Disease
DOI: 10.1007/s10545-008-0942-6
Authors: S. F. Dobrowolski, A. L. Pey, R. Koch, H. Levy, C. C. Ellingson, E. W. Naylor, A. Martinez
Institutions: University of Bergen, University of Southern California, Boston Children's Hospital, Medical University of South Carolina
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: Norges Forskningsråd, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Award: G3044840151
OpenAlex ID: W2077513360
FWCI: 2.216
Cites: 40
Cited by: 29
Related to: 10
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