Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Abstract Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involvin...

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Main Authors: Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:JIMD Reports
Subjects:
chronic renal failure
Fabry disease
GLA mutation
hypertrophic cardiomyopathy
late onset
stroke
Online Access:https://doi.org/10.1002/jmd2.12156

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