title: Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
authors.forename: Mirjam M C
authors.initials: MM
authors.lastname: Wamelink
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Marie
authors.initials: M
authors.lastname: Gonzales
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Saudubray
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
mesh_terms: 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*
chemical_list: D006539:Heptoses; C003011:sedoheptulose; D012255:Ribitol; D014153:Transaldolase