Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and <scp>B4GALT</scp> ‐ <scp>CDG</scp> : Expanding the Clinical Spectrum With a Novel Pathogenic Variant
This case highlights the complexity of diagnosing dual rare metabolic diseases and the importance of genetic testing in uncovering novel pathogenic variants. It has also contributed to expanding the clinical manifestation spectrum of B4GALT1-CDG, which is an ultra-rare disorder.
Authors
- Melike Ersoy (ORCID: https://orcid.org/0000-0002-2316-0790)
- Soner Erdin (ORCID: https://orcid.org/0000-0002-3955-1657)
- Eda Çelebi Bitkin (ORCID: https://orcid.org/0000-0002-6586-7305)
- Esra Deniz Papatya Çakır (ORCID: https://orcid.org/0000-0003-4664-7435)
- Hüseyin Önay (ORCID: https://orcid.org/0000-0002-0584-8866)
Institutions
- University of Health Science (KH)
- Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi (TR)
- Bakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-12-03
- DOI
- https://doi.org/10.1111/cge.70119
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00