-transparent.png){kind=logo}
We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17-week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.
Related Publications
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
February 1990,
Prenatal diagnosis,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
March 2003,
Prenatal diagnosis,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
November 1984,
American journal of human genetics,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
February 1984,
The Australian & New Zealand journal of obstetrics & gynaecology,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
March 1989,
Prenatal diagnosis,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
January 1992,
British journal of obstetrics and gynaecology,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
November 1984,
Harefuah,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
April 2004,
Current opinion in obstetrics & gynecology,
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
September 1983,
Science (New York, N.Y.),
L Poenaru, and
C Mezard, and
S Akli, and
J F Oury, and
Y Dumez, and
J Boue
August 1975,
The Journal of pediatrics,
