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pro vyhledávání: '"Luciano de Albuquerque Mota"'
Autor:
Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto, Paulo Ribeiro Nóbrega
Publikováno v:
Brain Sciences, Vol 13, Iss 7, p 979 (2023)
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various ti
Externí odkaz:
https://doaj.org/article/5f3faf1df17b4838a82fcd0324680dd7
