Work

A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency

Year: 2022

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63104

Authors: Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M. Houten, Bryn D. Webb

Institutions: Icahn School of Medicine at Mount Sinai, University of Wisconsin–Madison

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: W4313281086

FWCI: 0.174

Cites: 17

Cited by: 2

Related to: 10