Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
Wamelink
Mirjam M C
MM
Struys
Eduard A
EA
Valayannopoulos
Vassili
V
Gonzales
Marie
M
Saudubray
Jean-Marie
JM
Jakobs
Cornelis
C
D000653:Amniotic Fluid / Q000737:chemistry*; D005260:Female; D006539:Heptoses / Q000378:metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012255:Ribitol / Q000378:metabolism; D014153:Transaldolase / Q000172:deficiency*
D006539:Heptoses; C003011:sedoheptulose; D012255:Ribitol; D014153:Transaldolase