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The prevalence and diagnosis of lysosomal storage diseases in Poland

โœ Scribed by Tylki-Szymańska, Anna; Czartoryska, Barbara; Ługowska, Agnieszka; Górska, Danuta

Book ID
113042803
Publisher
Springer
Year
2001
Tongue
English
Weight
73 KB
Volume
160
Category
Article
ISSN
0340-6997

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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