Lysosomal storage diseases are a rare but significant cause of non-immune hydrops fetalis (NIHF). In 17 cases of NIHF detected by ultrasound, the activity of five lysosomal enzymes was measured in leukocytes or plasma of 1 ml of fetal blood obtained by cordocentesis. By this approach seven lysosomal
โฆ LIBER โฆ
Prenatal diagnosis of lysosomal storage diseases
โ Scribed by Kleijer, W. J. ;Sachs, E. S. ;Niermeijer, M. F.
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 151 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0018-2214
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Prenatal diagnosis of lysosomal storage
โ
Johanna E. M. Groener; Frank L. de Graaf; Ben J. H. M. Poorthuis; Humphrey H. H.
๐
Article
๐
1999
๐
John Wiley and Sons
๐
English
โ 136 KB
๐ 2 views
Diagnosis and prevention of lysosomal st
โ
K. D. Krasnopolskaya; T. V. Mirenburg; E. L. Aronovich; T. V. Lebedeva; O. N. Od
๐
Article
๐
1993
๐
Springer
๐
English
โ 525 KB
Rheumatologic aspects of lysosomal stora
โ
Bernhard Manger; Eugen Mengel; Roland M. Schaefer
๐
Article
๐
2006
๐
Springer
๐
English
โ 185 KB
MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
โ
YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK
๐
Article
๐
1996
๐
John Wiley and Sons
๐
English
โ 469 KB
๐ 1 views
Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p
Intrafamilial variability in lysosomal s
โ
Zlotogora, Joรซl ;Opitz, John M. ;Reynolds, James F.
๐
Article
๐
1987
๐
John Wiley and Sons
๐
English
โ 423 KB
Transport and storage of amniotic fluid
โ
Niermeijer, M. F. ;Halley, D. ;Sachs, E. ;Tichelaar-Klepper, C. ;Garver, K. L.
๐
Article
๐
1973
๐
Springer-Verlag
โ 196 KB