Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.
Manning
N J
NJ
Department of Chemical Pathology and Neonatal Screening, The Children's Hospital, Sheffield, UK.
Olpin
S E
SE
Pollitt
R J
RJ
Downing
M
M
Heeley
A F
AF
Young
I D
ID
D000653:Amniotic Fluid / Q000378:metabolism*; D017809:Fatal Outcome; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency*; D005650:Fumarates / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology*
D005650:Fumarates; C032005:fumaric acid; D005649:Fumarate Hydratase