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Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly

โœ Scribed by Stephan vom Dahl; Eugen Mengel


Book ID
108074682
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
933 KB
Volume
24
Category
Article
ISSN
1521-6918

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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