First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination.
Jakobs
C
C
Stellaard
F
F
Kvittingen
E A
EA
Henderson
M
M
Lilford
R
R
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D006537:Heptanoates / Q000032:analysis*; D006538:Heptanoic Acids / Q000032:analysis*; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014443:Tyrosine / Q000097:blood*
D006537:Heptanoates; D006538:Heptanoic Acids; D014443:Tyrosine; C020804:succinylacetone