Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome.
D000328:Adult; D001853:Bone Marrow / Q000201:enzymology*; D001854:Bone Marrow Cells; D001921:Brain / Q000201:enzymology; D001925:Brain Damage, Chronic / Q000201:enzymology* / Q000209:etiology; D002454:Cell Differentiation; D002455:Cell Division; D002478:Cells, Cultured / Q000201:enzymology; D002675:Child, Preschool; D002999:Clone Cells; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011687:Purines / Q000378:metabolism*; D014527:Uric Acid / Q000097:blood / Q000652:urine
D011687:Purines; D014527:Uric Acid