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

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 involving 10 tert...

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Detalles Bibliográficos
Autores principales: Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653245/
https://www.ncbi.nlm.nih.gov/pubmed/33204599
http://dx.doi.org/10.1002/jmd2.12156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653245/
https://www.ncbi.nlm.nih.gov/pubmed/33204599
http://dx.doi.org/10.1002/jmd2.12156

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