Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease.
D000228:Adenine Phosphoribosyltransferase / Q000032:analysis; D000653:Amniotic Fluid / Q000201:enzymology; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005332:Fetoscopy; D005817:Genetic Counseling; D006197:Hair / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000032:analysis*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase