Work

Newly defined peroxisomal disease with novel ACBD5 mutation

Year: 2021

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2020-0352

Authors: Ozlem Gorukmez, Cengiz Havalı, Orhan Gorukmez, Sevil Dorum

Institution: S.B.Ü. Bursa Yüksek İhtisas Eğitim ve Araştırma Hastanesi

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: W3206742052

FWCI: 1.805

Cites: 25

Cited by: 12

Related to: 10