Article
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Public health genomics - 1 Jan 2021
Barney Anitha M, Danda Sumita, Abraham Aby, Fouzia N A, Gowdra Aruna, Abraham Suneetha Susan Cleave, Sony Mohan, Das Sweta, Korula Sophy, Mathai Sarah, Simon Anna, Kumar Sathish
Abstract excerpt
INTRODUCTION: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (GBA) gene result in defective functioning of glucosylceramidase that causes deposition of glucocerebroside in cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). Definite...
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