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...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Biomolecules
المؤلفون الرئيسيون:	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
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	MDPI AG 2024-02-01
الموضوعات:	Niemann–Pick Disease acid sphingomyelinase deficiency SMPD1 NPC1 NPC2 Olipudase α
الوصول للمادة أونلاين:	https://www.mdpi.com/2218-273X/14/2/211