Article
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Human mutation - 1 Oct 2021
Deshpande Dipti, Gupta Shailesh Kumar, Sarma Asodu Sandeep, Ranganath Prajnya, Jain S Jamal Md Nurul, Sheth Jayesh, Mistri Mehul, Gupta Neerja, Kabra Madhulika, Phadke Shubha R, Girisha Katta M, Dua Puri Ratna, Aggarwal Shagun, Datar Chaitanya, Mandal Kausik, Tilak Preetha, Muranjan Mamta, Bijarnia-Mahay Sunita, Rama Devi A Radha, Tayade Naresh B, Ranjan Akash, Dalal Ashwin B
Abstract excerpt
Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann-Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal storage disease. The knowledge of variant spectrum in Indian patients is crucial for early and accurate NPD diagnosis and genetic counseling of families. In this study, we recruited 40 unrelated pediatric patients manifesting symptoms of ASMD...
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