Associated Papers
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
Barrett MJ et al.
Journal of Inherited Metabolic Disease, 2013
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Giraldo P et al.
Orphanet Journal of Rare Diseases, 2012
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
Giraldo P et al.
Journal of Inherited Metabolic Disease, 2011
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Alfonso P et al.
Journal of Human Genetics, 2007
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