A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome
This case report is a unique summary of a patient with galactosemia who further was diagnosed with CLS that emphasizes the possibility of co-occurrence of rare diseases and highlights the importance of conducting further investigations in patients with unexplained findings in the context of existing metabolic diseases.
Authors
- Abdülkerim Kolkıran
- Abdullah Sezer (ORCID: https://orcid.org/0000-0003-3886-3808)
- Berna Uçan (ORCID: https://orcid.org/0000-0002-2109-139X)
- Esra Sayar (ORCID: https://orcid.org/0009-0006-4147-3383)
- Asburçe Olgaç (ORCID: https://orcid.org/0000-0002-4989-221X)
- Gizem Gökçe Altaş
Institutions
- Ankara University (TR)
- University of Health Science (KH)
- Turkish Armed Forces (TR)
- Memorial Ankara Hospital (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-10-13
- DOI
- https://doi.org/10.1515/jpem-2025-0159
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00