Work

Molecular Genetics of 3β-Hydroxy-Δ5-C27-Steroid Oxidoreductase Deficiency in 16 Patients with Loss of Bile Acid Synthesis and Liver Disease

Year: 2003

Type: article

Study design: Observational Study

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/jc.2002-021580

Authors: Jeffrey B. Cheng, Emmanuel Jacquemin, Marie Gerhardt, Hisham Nazer, Danièle Cresteil, James E. Heubi, Kenneth D. R. Setchell, David W. Russell

Institutions: The University of Texas Southwestern Medical Center, Inserm, Bicêtre Hospital, Hôpital Paris Saint-Joseph, Alfaisal University, King Faisal Specialist Hospital & Research Centre, Cincinnati Children's Hospital 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

Funders: Falk Foundation, National Institutes of Health, U.S. Public Health Service, National Heart, Lung, and Blood Institute

Awards: G1587498565, G2087983023, Molecular Basis of Cholesterol Metabolism

OpenAlex ID: W2143085762

FWCI: 2.183

Cites: 26

Cited by: 115

Related to: 10