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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-11-01
Colecção:	JIMD Reports
Assuntos:	chronic renal failure Fabry disease GLA mutation hypertrophic cardiomyopathy late onset stroke
Acesso em linha:	https://doi.org/10.1002/jmd2.12156
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