Associated Papers
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
39927608 (PubMed )
Supplement: MDS-40-605-s001.docx
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M et al.
International Journal of Molecular Sciences, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
d'Avila Paskulin L et al.
Molecular Genetics and Metabolism Reports, 2019
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
Select a paper to view details