Associated Papers
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 2025
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Smith LJ et al.
Human Molecular Genetics, 2023
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Torralba MA et al.
Qjm : Monthly Journal of the Association of Physicians, 2016
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2016
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
Atrian S et al.
Proteins, 2008
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Alfonso P et al.
Journal of Human Genetics, 2007
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M et al.
Human Mutation, 2004
Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Torralba MA et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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