Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Mateos
F A
FA
Division of Internal Medicine, La Paz Hospital, Universidad Autónoma, Madrid, Spain.
Puig
J G
JG
Ramos
T H
TH
Jiménez
M L
ML
Romera
N M
NM
González
A G
AG
D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D006801:Humans; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007042:Hypoxanthines / Q000032:analysis; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011687:Purines / Q000032:analysis*; D014527:Uric Acid / Q000032:analysis; D019820:Xanthine; D014970:Xanthines / Q000032:analysis
D007042:Hypoxanthines; D011687:Purines; D014970:Xanthines; D019820:Xanthine; D014527:Uric Acid; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase