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 - McKeran, R.O.; Howell, A.; Andrews, T.M.; Watts, R.W.E.; Arlett, C.F. (Journal of the neurological sciences, 1974)
Keywords: Adult; Bone Marrow - enzymology; Bone Marrow Cells; Brain - enzymology; Brain Damage, Chronic - enzymology; Brain Damage, Chronic - etiology; Cell Differentiation; Cell Division; Cells, Cultured - enzymology; Child, Preschool; Clone Cells; Erythrocytes - enzymology; Female; Fibroblasts - enzymology; Humans; Lesch-Nyhan Syndrome - complications; Lesch-Nyhan Syndrome - enzymology; Lesch-Nyhan Syndrome - genetics; Male; Middle Aged; Purines - metabolism; Uric Acid - blood; Uric Acid - urine