Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
Cheillan
David
D
Salomons
Gajja S
GS
Acquaviva
Cécile
C
Boisson
Catherine
C
Roth
Philippe
P
Cordier
Marie-Pierre
MP
François
Laurence
L
Jakobs
Cornelis
C
Vianey-Saban
Christine
C
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry*; D003401:Creatine / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005865:Gestational Age; D005998:Glycine / Q000031:analogs & derivatives* / Q000032:analysis; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D011247:Pregnancy; D012016:Reference Values
D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D003401:Creatine; D005998:Glycine