Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy

• Main Authors: Nailya R. Mingacheva (Author), Aelita A. Kamalova (Author), Nargis A. Artykova (Author), Razilya F. Rakhmaeva (Author), Gulnara I. Sageeva (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Niemann-Pick disease type C is a multisystem orphan disease caused by mutations in the NPC1 and NPC2 genes and characterized by clinical polymorphism. The difficulties of managing such patients lie in the diagnosis and differential diagnostic search with other conditions with cholestasis...