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Lysosomal storage disorders: from biology to the clinic with reference to India

Lysosomal storage disorders (LSDs) are a group of seventy different metabolic storage diseases due to accumulation of substrate mainly in the form of carbohydrate, lipids, proteins, and cellular debris. They occur due to variant in different genes that regulate lysosomal enzymes synthesis, transport...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Nair, Aadhira, Jee, Babban
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10305895/
https://www.ncbi.nlm.nih.gov/pubmed/37383036
http://dx.doi.org/10.1016/j.lansea.2022.100108