Work

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Year: 1997

Type: article

Source: Nature Genetics

DOI: 10.1038/ng1097-190

Authors: Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse, Lodewijk Ijlst, Anton O. Muijsers, Ola H. Skjeldal, Oddvar Stokke, Cornells Jakobs, Guy T.N. Besley, J. Ed Wraith, Ronald J.A. Wanders

Institutions: Amsterdam UMC Location University of Amsterdam, University of Amsterdam, Oslo University Hospital, Royal Manchester 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

OpenAlex ID: W2018171395

FWCI: 13.18

Cites: 21

Cited by: 307

Related to: 10