Výsledky vyhledávání - "Bifunctional Purine Biosynthesis Protein PURH"

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case

Autor: Francis Ramond, Irène Ceballos, Paul Kuentz, Sandrine Marie, Kareen Billiemaz, Bénédicte Héron, Marie-Françoise Vincent, Marlène Rio, Monique Piraud, Anne-Sophie Denommé-Pichon, Renaud Touraine, Apolline Imbard

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 43(6)

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199e8b68384227c6da3dfd704f873251
https://pubmed.ncbi.nlm.nih.gov/32557644

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