Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
Elsas
L J
LJ
Division of Medical Genetics, Department of Pediatrics and Biochemistry, Emory University, Atlanta, GA 30322, USA. lje@rw.ped.emory.edu
D000653:Amniotic Fluid / Q000166:cytology; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D004032:Diet; D005260:Female; D005690:Galactose / Q000008:administration & dosage; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose