Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid

1990 ◽  
Vol 10 (4) ◽  
pp. 231-235 ◽  
Author(s):  
Livia Poenaru ◽  
Christine Mezard ◽  
Said Akli ◽  
Jean-François Oury ◽  
Yves Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type Ii ◽  
Mucolipidosis Type

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

1984 ◽  
Vol 141 (3) ◽  
pp. 153-157 ◽  
Author(s):  
C. Jakobs ◽  
L. Sweetman ◽  
S. K. Wadman ◽  
M. Duran ◽  
J.-M. Saudubray ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chemical Analysis ◽  
Amniotic Fluid ◽  
Dicarboxylic Acids ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

1993 ◽  
Vol 13 (7) ◽  
pp. 589-596 ◽  
Author(s):  
Miriam S. Dimaio ◽  
Richard Barth ◽  
Kathryn E. Koprivnikar ◽  
Betsy L. Sussman ◽  
Joshua A. Copel ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Osteogenesis Imperfecta ◽  
Dna Analysis ◽  
First Trimester ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii

scholarly journals Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses

2016 ◽  
Vol 2 (1) ◽  
pp. 19-22
Author(s):  
Motomichi Kosuga ◽  
Michiyo Okada ◽  
Osuke Migita ◽  
Toju Tanaka ◽  
Haruhiko Sago ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Type Ii ◽  
Molecular Analyses ◽  
Mucolipidosis Type

First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination

1990 ◽  
Vol 10 (2) ◽  
pp. 133-134 ◽  
Author(s):  
C. Jakobs ◽  
F. Stellaard ◽  
E. A. Kvittingen ◽  
M. Henderson ◽  
R. Lilford
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type I ◽  
Tyrosinemia Type I

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

1975 ◽  
Vol 87 (2) ◽  
pp. 221-226 ◽  
Author(s):  
Pertti Aula ◽  
Juhani Rapola ◽  
Seppo Autio ◽  
Kari Raivio ◽  
Olavi Karjalainen
Keyword(s):  
Prenatal Diagnosis ◽  
Type Ii ◽  
Cell Disease ◽  
Mucolipidosis Type ◽  
Fetal Pathology

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

1985 ◽  
Vol 8 (S2) ◽  
pp. 145-146 ◽  
Author(s):  
R. A. Chalmers ◽  
B. M. Tracey ◽  
G. S. King ◽  
B. Pettit ◽  
F. Rocchiccioli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii
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