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Diagnosing AICA-ribosiduria by capillary electrophoresis.
Hornik P, Vyskocilová P, Friedecký D, Adam T. Hornik P, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Oct 20;843(1):15-9. doi: 10.1016/j.jchromb.2006.05.020. Epub 2006 Jun 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16798121
AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and select …
AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo bios …
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M. Pelet A, et al. Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237. Hum Mol Genet. 2019. PMID: 31600779
Similar to other two known DNPS defects-adenylosuccinate lyase deficiency and AICA-ribosiduria-the PAICS mutation prevented purinosome formation in the patient's skin fibroblasts, and this phenotype was corrected by transfection with the wild-type but not the mutate …
Similar to other two known DNPS defects-adenylosuccinate lyase deficiency and AICA-ribosiduria-the PAICS mutation prevented pu …