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The blood–brain barrier and treatment of lysosomal storage diseases

✍ Scribed by J.M. Aerts; M.J. van Breemen; A.P. Bussink; J. Brinkman; C.E.M. Hollak; M. Langeveld; G.E. Linthorst; A.C. Vedder; M. de Fost


Book ID
116537593
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
116 KB
Volume
1277
Category
Article
ISSN
0531-5131

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Prenatal diagnosis of lysosomal storage
✍ Johanna E. M. Groener; Frank L. de Graaf; Ben J. H. M. Poorthuis; Humphrey H. H. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB 👁 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