- ►nih.gov [PDF] BR Migeon, J Axelman, SJ de Beur, D Valle, … - American journal of human genetics, 1989 - pubmedcentral.nih.gov Studies of five heterozygous females from three kindreds segregating
incontinentia pigmenti indicate that cells expressing the mutation have been
eliminated from skin fibroblast cultures and in varying degrees from ... Cited by 52 - Related articles - All 3 versions
- ►nih.gov [PDF] IH Fox, IL Dwosh, PJ Marchant, S Lacroix, … - Journal of Clinical Investigation, 1975 - pubmedcentral.nih.gov ABSTRA CT The mutation in a young gouty male with a partial deficiency of
hypoxanthine-guanine phos- phoribosyltransferase has been evaluated. The serum
uric acid was 11.8 mg/100 ml, and the urinary uric acid excretion was 1,279 ... Cited by 22 - Related articles - All 6 versions
- ►nih.gov [PDF] J Dancis, LC Yip, RP Cox, S Piomelli, ME … - Journal of Clinical Investigation, 1973 - pubmedcentral.nih.gov AB S TRACT Afamily is reported in which each of two sisters has a son with no
detectable hypoxanthine phosphoribosyltransferase (HPRT) (EC 2. 4. 2. 8) in his
erythrocytes, a finding considered pathognomonic of Lesch-Nyhan disease. ... Cited by 20 - Related articles - All 4 versions
CHMM Bruyn - Human Genetics, 1976 - Springer Summary. In man congenital lack of an enzyme of the purine salvage system,
hypoxanthine- guanine phosphoribosyl transferase (HG-PRT EC 2.4.2.8), is mostly
accompanied by a picture known as the Lesch-Nyhan syndrome. The degree of ... Cited by 17 - Related articles - All 2 versions
- ►nih.gov [PDF] JM Wilson, P Frossard, RL Nussbaum, CT … - Journal of Clinical Investigation, 1983 - pubmedcentral.nih.gov ABSTRA C T We have developed a method for the direct analysis of a
hypoxanthine-guanine phosphori- bosyltransferase (HPRT) allele associated with a
de- ficiency of enzyme activity and an early onset of gout. The ... Cited by 15 - Related articles - All 7 versions
G Rijksen, GEJ Staal, MJM Vlist, FA Beemer … - Human Genetics, 1981 - Springer Summary. A patient with the full clinical expression of the classical
Lesch-Nyhan syndrome is presented with a residual hypoxanthine-guanine
phosphoribosyl transferase (HGPRT) activity of 5-10% in erythrocyte lysate ... Cited by 15 - Related articles - All 2 versions
[CITATION] Disorders of purine and pyrimidine metabolism
JE Seegmiller - The year in metabolism, 1976 - Plenum Medical Book Co. Cited by 14
RBG LA JOHNSON, BT EMMERSON, 1976 - nature.com THE X-linked condition hypoxanthine guanine phosphoribosyltransferase (HGPRT)
deficiency may be either gross or moderate in degree and is invariably
associated with overproduction of urate in the hemizygote 1,2 . In ... Cited by 13 - Related articles - All 3 versions
BT Emmerson, RB Gordon, L Thompson - Internal Medicine Journal, 1975 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 13 - Related articles - All 2 versions
JG Puig, FA Mateos, RJ Torres, AS Bu o - European journal of clinical investigation, 1998 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 11 - Related articles - BL Direct - All 6 versions
