Results 171 to 180 of about 2,350,820 (217)
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1967
Niemann-Pick disease (NPD) is a rare hereditary disorder of lipid metabolism which is characterized by deposition of sphingomyelin in endothelial, mesenchymal and parenchymal cells of almost every organ and tissue. Its clinical manifestations appear in most instances during the first year of life.
G. Schettler, W. Kahlke
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Niemann-Pick disease (NPD) is a rare hereditary disorder of lipid metabolism which is characterized by deposition of sphingomyelin in endothelial, mesenchymal and parenchymal cells of almost every organ and tissue. Its clinical manifestations appear in most instances during the first year of life.
G. Schettler, W. Kahlke
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Archives of Neurology & Psychiatry, 1930
Some clinical manifestations of Niemann-Pick's disease, particularly those pertaining to the central nervous system, so much resemble the infantile form (type Tay-Sachs) of amaurotic family idiocy that the question naturally arises whether these two morbid conditions are not one disease. In a very few instances1it was possible to show their identity by
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Some clinical manifestations of Niemann-Pick's disease, particularly those pertaining to the central nervous system, so much resemble the infantile form (type Tay-Sachs) of amaurotic family idiocy that the question naturally arises whether these two morbid conditions are not one disease. In a very few instances1it was possible to show their identity by
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1996
There are four types of Niemann—Pick disease — A,B, C and D, which all have an accumulation of sphingomyelin in various tissues of the body as the basic defect. This accumulation is due to a deficiency of the enzyme, sphingomyelinase, which normally breaks down this lipid substance.
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There are four types of Niemann—Pick disease — A,B, C and D, which all have an accumulation of sphingomyelin in various tissues of the body as the basic defect. This accumulation is due to a deficiency of the enzyme, sphingomyelinase, which normally breaks down this lipid substance.
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Niemann‐Pick disease in a fœtus
The Journal of Pathology and Bacteriology, 1953openaire +2 more sources
Reticuloendotheliosis: Niemann-Pick disease
The Journal of Pediatrics, 1968openaire +2 more sources
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale
Journal of the Neurological Sciences, 2006Mercè Pineda i Marfà +2 more
exaly