Results 171 to 180 of about 21,027 (214)
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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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Lung disease in niemann–pick disease
Pediatric Pulmonology, 2007AbstractBackgroundLung involvement in children with Niemann–Pick disease has rarely been studied systematically.ObjectiveTo assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann–Pick diseases.DesignRetrospective analysis of patient records.PatientsThirteen patients, with type A (n = 1), type B (n = 10), and
Nathalie, Guillemot +4 more
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Types A and B Niemann-Pick disease
Best Practice & Research Clinical Endocrinology & Metabolism, 2015Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections,
Edward H, Schuchman +1 more
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Niemann–Pick disease type C1 presenting with psychosis in an adolescent male [PDF]
European Child and Adolescent Psychiatry, 2009 Niemann–Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including ...
Christian J Bachmann +1 more
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Ocular Findings in Niemann-Pick Disease
American Journal of Ophthalmology, 1975Light and electron microscopic studies of the eyes of a 3 1/2-year-old girl who died of Niemann-Pick disease disclosed accumulation of intralysosomal lipid material in all cells other than those that were pigmented. The nonpigmented layer of the ciliary process and the ganglion cells of the retina were especially involved.
Libert, Jacques +2 more
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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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