Results 221 to 230 of about 25,072 (275)
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Pathology - Research and Practice, 1989
Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
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Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
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The Indian Journal of Pediatrics, 1970
A case of Niemann Pick disease with a characteristic clinical picture and confirmatory bone marrow findings is reported. This is the third case report from India and the first case to be reported in a Mysorean child. In addition, the child also showed evidences of hemolytic anemia, the exact nature of which could not be confirmed.
I, Amla, G S, Gopalakrishna, N, Kannan
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A case of Niemann Pick disease with a characteristic clinical picture and confirmatory bone marrow findings is reported. This is the third case report from India and the first case to be reported in a Mysorean child. In addition, the child also showed evidences of hemolytic anemia, the exact nature of which could not be confirmed.
I, Amla, G S, Gopalakrishna, N, Kannan
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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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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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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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Enteropathy in Niemann-Pick disease
Zeitschrift für Kinderheilkunde, 1973Three consecutive cases of Niemann-Pick disease with predominant enteropathy were seen. The diagnosis was confirmed by the demonstration of typical foamy cells in the bone marrow, small intestinal mucosa, and liver. The enteropathy was apparent in steatorrhoea, xylose malabsorption, protein loss etc.
B, Hager-Malecka +3 more
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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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Journal of the European Academy of Dermatology and Venereology, 2000
AbstractNiemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread ...
A A, Raddadi, A A, Al Twaim
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AbstractNiemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread ...
A A, Raddadi, A A, Al Twaim
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Clinical Genetics, 2003
Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system.
M T, Vanier, G, Millat
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Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system.
M T, Vanier, G, Millat
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