Article
Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients.
Archives of medical research - 1 Oct 2021
Silva García Raúl, de Frutos Laura López, Arreguin Elsa Ávila, González Cecilia Correa, Ortiz José Elias García, Ornelas Sergio Franco, Castellano Pilar Giraldo, Favela Francisco Blanco
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is the most prevalent lysosomal storage disorder, affecting all ethnic groups, although its prevalence is higher in Ashkenazi Jewish populations. Three clinical forms of GD have been described: Type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute neuronopathic. An autosomal recessive disorder is caused by variants in the human glucocerebrosidase gene (GBA;...
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