Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Abstract Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on th...

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Bibliographic Details
Main Authors: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:JIMD Reports
Subjects:
adult‐onset LSDs
Fabry disease
Gaucher disease
p.Leu483pro
Online Access:https://doi.org/10.1002/jmd2.12407

Internet

https://doi.org/10.1002/jmd2.12407

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