Work

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

Year: 2024

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2024.108541

Authors: Shawn E. Christ, Georgianne Arnold, Uta Lichter-Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding, Elaina Jurecki, Harvey Levy, Nicola Longo, Hadley Morotti, Stephanie Sacharow, Janet Thomas, Desiree A. White

Institutions: University of Missouri, University of Pittsburgh, Boston Children's Hospital, Harvard University, Washington University in St. Louis, Oregon Health & Science University, National PKU Alliance, University of Utah, Children's Hospital Colorado, University of Colorado Anschutz

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: Office of Dietary Supplements, Cincinnati Children's Hospital Medical Center, University of Cincinnati, National PKU Alliance, Rare Diseases Clinical Research Network, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G3793273039, Hyperphenylalaninemia Disorders Consortium of the Rare Disease Clinical Research Network, Oregon Clinical and Translational Research Institute

OpenAlex ID: W4400896610

FWCI: 1.164

Cites: 51

Cited by: 4

Related to: 10