Work

Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency

Year: 2024

Type: article

Study design: Case Report

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2024.119747

Authors: Andrew T. Nelson, Patricia M. Jones, Jing Cao

Institution: The University of Texas Southwestern 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

OpenAlex ID: W4398201044

FWCI: 0.291

Cites: 6

Cited by: 1

Related to: 10