منابع مشابه
Renal involvement in Neimann-Pick Disease
We describe the renal biopsy findings in a 14-year-old girl with Neimann-Pick disease. The renal biopsy showed chronic changes involving all components of the parenchyma, including focal global glomerulosclerosis, tubular atrophy, interstitial fibrosis and vascular sclerosis. On light microscopy, significant findings included foamy podocytes, vacuolated tubular epithelial cells and collections ...
متن کاملother experimental therapies in neimann pick diseases
how to cite this article: taghdiri mm. other experimental therapies in neimann pick diseases. iran j child neurol. 2015 autumn;9:4(suppl.1): 25. pls see pdf.
متن کاملdiagnostic methods for neimann-pick type c
how to cite this article: salehpour sh. diagnostic methods for neimann-pick type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 16-17. pls see pdf.
متن کاملPulmonary involvement in Niemann-Pick type B disease.
Bone marrow biopsy showed infiltration by numerous histiocytes. Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with the May-Grünwald-Giemsa stain (Figure 2). This histological pattern was indicative of Niemann-Pick disease. Confirmation of this diagnosis was obtained by lysosomal enzyme assay that showed undetectable sphingomyelina...
متن کاملRenal involvement in Fabry's disease.
Fabry's disease is a sphingolipid storage disorder which is caused by mutations within the gene responsible for the expression of the lysosomal hydrolase, oc-galactosidase A ( 1). The enzyme defect results in the progressive deposition of uncleaved glycosphingolipids within lysosomes of endothelial, perithelial and smooth muscle cells. The major clinical features may be divided into cutaneous l...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2009
ISSN: 2048-8505,2048-8513
DOI: 10.1093/ndtplus/sfp101