Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Franciele de Fátima Lopes"'
Autor:
Tatiane Grazieli Hammerschmidt, Marisa Encarnação, Jéssica Lamberty Faverzani, Franciele de Fátima Lopes, Fabiano Poswar de Oliveira, Carolina Fischinger Moura de Sousa, Isaura Ribeiro, Sandra Alves, Roberto Giugliani, Carmen Regla Vargas
Publikováno v:
Archives of biochemistry and biophysics.
Niemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c572c643b3816a2dc3537438c2048e42
https://pubmed.ncbi.nlm.nih.gov/36608914
https://pubmed.ncbi.nlm.nih.gov/36608914
Autor:
Tatiane Grazieli, Hammerschmidt, Bruna, Donida, Marco, Raabe, Jéssica Lamberty, Faverzani, Franciele, de Fátima Lopes, Andryele Z, Machado, Rejane G, Kessler, Luiza S, Reinhardt, Fernanda, Poletto, Dinara J, Moura, Carmen R, Vargas
Publikováno v:
Metabolic brain disease.
Niemann-Pick C disease (NPC) is an autosomal recessive genetic disorder resulting from mutation in one of two cholesterol transport genes: NPC1 or NPC2, causing accumulation of unesterified cholesterol, together with glycosphingolipids, within the en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3dcbbcf205c1e9266c77e3f3e782fd90
https://pubmed.ncbi.nlm.nih.gov/36447062
https://pubmed.ncbi.nlm.nih.gov/36447062