CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis

CPS1 deficiency is an inborn error of metabolism caused by loss-of-function mutations in the CPS1 gene, catalyzing the initial reaction of the urea cycle. Deficiency typically leads to toxic levels of plasma ammonia, cerebral edema, coma, and death, with the only curative treatment being liver trans...

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Detalles Bibliográficos
Autores principales: Nitzahn, Matthew, Truong, Brian, Khoja, Suhail, Vega-Crespo, Agustin, Le, Colleen, Eliav, Adam, Makris, Georgios, Pyle, April D., Häberle, Johannes, Lipshutz, Gerald S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2021
Materias:
Original Contribution
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686786/
https://www.ncbi.nlm.nih.gov/pubmed/34970092

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