Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

BACKGROUND: Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J. C., Mackinnon, Sabrina, Yue, Wyatt W., Peake, Roy W. A., Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T., Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M. Estela, Coelho, Ana I.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6260575/
https://ncbi.nlm.nih.gov/pubmed/30477550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0954-8
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