Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report

RATIONALE: Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease (LSD) caused by mutations in NPC1 or NPC2 genes. Mutations result in abnormal cholesterol trafficking, which is manifested by abnormal cholesterol and glycosphingolipid accumulation in lysosomes of various cells...

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Detalles Bibliográficos
Autores principales: Pintavorn, Pairach, Munie, Stephanie, Munagapati, Sweta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Research Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619285/
https://www.ncbi.nlm.nih.gov/pubmed/36325261
http://dx.doi.org/10.1177/20543581221124635

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