Article
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Biomolecules - 11 Feb 2024
Tirelli Claudio, Rondinone Ornella, Italia Marta, Mira Sabrina, Belmonte Luca Alessandro, De Grassi Mauro, Guido Gabriele, Maggioni Sara, Mondoni Michele, Miozzo Monica Rosa, Centanni Stefano
Abstract excerpt
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 SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies...
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