A carregar...

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency

The urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) catalyzes the initial step of the urea cycle; bi-allelic mutations typically present with hyperammonemia, vomiting, ataxia, lethargy progressing into coma, and death due to brain edema if ineffectively treated. The enzyme deficiency is pa...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Ther
Main Authors: Nitzahn, Matthew, Allegri, Gabriella, Khoja, Suhail, Truong, Brian, Makris, Georgios, Häberle, Johannes, Lipshutz, Gerald S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Gene & Cell Therapy 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7335736/
https://ncbi.nlm.nih.gov/pubmed/32359471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymthe.2020.04.011
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!