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Autor:
Nailya R. Mingacheva, Aelita A. Kamalova, Nargis A. Artykova, Razilya F. Rakhmaeva, Gulnara I. Sageeva
Publikováno v:
Педиатрическая фармакология, Vol 21, Iss 2, Pp 126-130 (2024)
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 diag
Externí odkaz:
https://doaj.org/article/335c56c26e9945e0a2eba293e07ae0a9