Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
Kvittingen
E A
EA
Guibaud
P P
PP
Divry
P
P
Mandon
G
G
Rolland
M O
MO
Domenichini
Y
Y
Jakobs
C
C
Christensen
E
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002824:Chorionic Villi / Q000201:enzymology*; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000378:metabolism*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase