Results 131 to 140 of about 12,631 (179)
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Current Opinion in Hematology, 2000
Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in ...
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Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in ...
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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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2013
The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in ...
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The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in ...
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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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The Journal of Pediatrics, 1939
Summary 1. Three cases of Niemann-Pick's disease occurring in one family are presented, together with their clinical, laboratory and pathological findings. Laboratory studies done on the mother are also presented. 2. A cherry-red spot was seen in the macula of two of the patients, and in one it was absent. 3.
David Merksamer, Benjamin Kramer
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Summary 1. Three cases of Niemann-Pick's disease occurring in one family are presented, together with their clinical, laboratory and pathological findings. Laboratory studies done on the mother are also presented. 2. A cherry-red spot was seen in the macula of two of the patients, and in one it was absent. 3.
David Merksamer, Benjamin Kramer
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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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Reticuloendotheliosis: Niemann-Pick disease
The Journal of Pediatrics, 1968openaire +2 more sources