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The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review

Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene <i>SMPD1</i> coding for sphingomyelin phosphodiesterase 1, with a consequent l...

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Principais autores: Claudio Tirelli, Ornella Rondinone, Marta Italia, Sabrina Mira, Luca Alessandro Belmonte, Mauro De Grassi, Gabriele Guido, Sara Maggioni, Michele Mondoni, Monica Rosa Miozzo, Stefano Centanni
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2024-02-01
Serier:Biomolecules
Fag:
Niemann–Pick Disease
acid sphingomyelinase deficiency
SMPD1
NPC1
NPC2
Olipudase α
Online adgang:https://www.mdpi.com/2218-273X/14/2/211
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