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
Neuronopathic Gaucher disease: Rare in the West, common in the East.
Goker-Alpan O et al.
Journal of Inherited Metabolic Disease, 2024
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B et al.
Bmc Neurology, 2022
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Alfonso P et al.
Blood Cells, Molecules & Diseases, 0
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
Alfonso P et al.
Blood Cells, Molecules & Diseases, 0
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