Associated Papers
Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.
Kumar N et al.
Cureus, 2026
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.
Wen XL et al.
World Journal of Clinical Cases, 2022
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Phetthong T et al.
Orphanet Journal of Rare Diseases, 2021
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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