Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countr...

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Detalles Bibliográficos
Publicado en:Case Rep Genet
Autores principales: Panigrahi, Inusha, Dhanorkar, Manoj, Suthar, Renu, Kumar, Chanchal, Baalaaji, Mullai, Thapa, Babu Ram, Kalra, Jasvinder
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6500671/
https://ncbi.nlm.nih.gov/pubmed/31139477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/3108093
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