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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2024-02-01
Edice:	Biomolecules
Témata:	Niemann–Pick Disease acid sphingomyelinase deficiency SMPD1 NPC1 NPC2 Olipudase α
On-line přístup:	https://www.mdpi.com/2218-273X/14/2/211
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!