First trimester prenatal diagnosis of glycogen storage disease type III.
Maire
I
I
Laboratoire de Biochimie, Hôpital Debrousse, Lyon, France.
Mandon
G
G
Mathieu
M
M
D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency* / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012016:Reference Values
D006004:Glycogen Debranching Enzyme System