SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

PURPOSE: Biallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholest...

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Detalles Bibliográficos
Autores principales: Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E, Ranucci, Giusy, Thiel, Christian, Straub, Beate K, Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W, Kuloğlu, Zarife, Blakely, Emma L, Taylor, Robert W, Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F, Haack, Tobias B, Staufner, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989927/
https://www.ncbi.nlm.nih.gov/pubmed/29419818
http://dx.doi.org/10.1038/gim.2017.260

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