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Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases

โœ Scribed by Niermeijer, M. F. ;Halley, D. ;Sachs, E. ;Tichelaar-Klepper, C. ;Garver, K. L.


Publisher
Springer-Verlag
Year
1973
Weight
196 KB
Volume
20
Category
Article
ISSN
0018-7348

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Prenatal diagnosis of lysosomal storage
โœ Johanna E. M. Groener; Frank L. de Graaf; Ben J. H. M. Poorthuis; Humphrey H. H. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 136 KB ๐Ÿ‘ 2 views

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