نتایج جستجو برای: niemann
تعداد نتایج: 2304 فیلتر نتایج به سال:
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...
When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's ...
A histochemical study was made of 13 cases of lipidoses of the central nervous system. Niemann-Pick's disease can be differentiated from other cerebral lipidoses by the finding that all affected cells store histochemically stainable phospholipids. Evidence has been adduced indicating that the material stored in infantile amaurotic idiocy is a complex containing ganglioside, cholesterol, and pos...
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