Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.
Pérez-Cerdá
C
C
Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma, Madrid, Spain.
Merinero
B
B
Sanz
P
P
Jiménez
A
A
García
M J
MJ
Urbón
A
A
Díaz Recasens
J
J
Ramos
C
C
Ayuso
C
C
Ugarte
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002250:Carbon Radioisotopes; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011422:Propionates / Q000032:analysis* / Q000097:blood / Q000652:urine; D011865:Radioisotope Dilution Technique; D012016:Reference Values; D014316:Tritium
D002250:Carbon Radioisotopes; D011422:Propionates; D014316:Tritium