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Current Opinion in Lipidology, 1998
Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key
L, Liscum, J J, Klansek
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Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key
L, Liscum, J J, Klansek
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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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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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Niemann–Pick's and Gaucher's diseases
Parkinsonism & Related Disorders, 2014A short account is presented of the evolution of knowledge concerning Niemann-Pick's and Gaucher's diseases, two autosomal recessive genetic disturbances of lysosomal storage function. This culminated in the intriguing realisation, arising from mounting clinical and molecular evidence, that glucocerebrosidase mutations constitute the most common risk ...
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Reticuloendotheliosis: Niemann-Pick disease
The Journal of Pediatrics, 1968openaire +2 more sources