Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT ‐ CDG : Expanding the Clinical Spectrum With a Novel Pathogenic Variant
Year: 2025
Type: article
Study design: Case Report
Source: Clinical Genetics
DOI: 10.1111/cge.70119
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W4416944288
