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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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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