Niemann-Pick Disease: A Case Report and Literature Review

Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course expe...

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Detalles Bibliográficos
Autores principales: Vélez Pinos, Paola Jacqueline, Saavedra Palacios, Michell Susan, Colina Arteaga, Paolo Andrés, Arevalo Cordova, Tania Diciana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9906968/
https://www.ncbi.nlm.nih.gov/pubmed/36779112
http://dx.doi.org/10.7759/cureus.33534

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9906968/
https://www.ncbi.nlm.nih.gov/pubmed/36779112
http://dx.doi.org/10.7759/cureus.33534

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