Work

A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0159

Authors: Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan, Asburce Olgac

Institutions: Ankara Etlik City Hospital, Sağlık Bilimleri Üniversitesi

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: W4415097582

FWCI: 0.526

Cites: 19

Cited by: 1

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