Work

Sterol concentrations in cultured Smith‐Lemli‐Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome

Year: 1997

Type: article

Source: American Journal of Medical Genetics

DOI: 10.1002/(sici)1096-8628(19970131)68:3<282::aid-ajmg7>3.3.co;2-s

Authors: Akira Honda, G. Stephen Tint, Gerald Salen, Richard I. Kelley, Megumi Honda, Ashok K. Batta, Thomas S. Chen, Sarah Shefer

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: U.S. Department of Veterans Affairs, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: CHOLESTEROL METABOLISM IN THE SMITH-LEMLI-OPITZ SYNDROME

OpenAlex ID: W4255328986

FWCI: 2.73

Cites: 23

Cited by: 28

Related to: 10