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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260575/
https://www.ncbi.nlm.nih.gov/pubmed/30477550
http://dx.doi.org/10.1186/s13023-018-0954-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260575/
https://www.ncbi.nlm.nih.gov/pubmed/30477550
http://dx.doi.org/10.1186/s13023-018-0954-8

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