Work

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0156

Authors: Milena Bjelica, Aleksandra Stojadinović, Marija Knežević Pogančev, Katarina Koprivšek, Jӧrn Oliver Sass, Sarah C. Grünert, Falko Wünsche, Raina Yamamoto

Institutions: University of Novi Sad, Hochschule Bonn-Rhein-Sieg, University of Freiburg, University Medical Center Freiburg

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: W4411260668

FWCI:

Cites: 14

Cited by:

Related to: 10