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- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.Hum Mol Genet. 2012; 21: 1534-1543
- AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.J Inherit Metab Dis. 2020; 43: 1254-1264
- AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.Am J Hum Genet. 2004; 74: 1276-1281
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424
- Crystal structure of abifunctionaltransformylase and cyclohydrolase enzyme in purine biosynthesis.Nat Struct Biol. 2001; 8: 402-406
- Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.Anal Biochem. 1986; 156: 81-90