Article
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Clinical chemistry and laboratory medicine - 25 Jun 2020
Lepe-Balsalobre Esperanza, Santotoribio José D, Nuñez-Vazquez Ramiro, García-Morillo Salvador, Jiménez-Arriscado Pilar, Hernández-Arévalo Paula, Delarosa-Rodríguez Rocío, Guerrero Juan M, Macher Hada C
Abstract excerpt
Objectives Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase (GBA) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation. Methods Descriptive observational study. University Hospital Virgen del Rocio patients diagnosed from GD from 1999 to 2019 were included. Demographic and clinical...
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