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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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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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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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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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Niemann‐Pick disease type C: An update
Journal of Inherited Metabolic Disease, 1991SummaryThe concept of Niemann‐Pick disease type C as a secondary sphingomyelin storage disorder (in contrast to the sphingomyelinase‐deficient types A and B) has become more and more prevalent, in view of the complex lipid storage pattern and variable sphingomyelinase activities.
M T, Vanier +3 more
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Niemann-Pick Disease Types C and D
Neurologic Clinics, 1989Patients grouped into categories termed type C Niemann-Pick disease and the Nova Scotia isolate called type D Niemann-Pick disease are characterized by mild to moderate hepatosplenomegaly, sea-blue histiocytes in the bone marrow, supranuclear gaze paresis in the vertical plane, slowly progressing ataxia, and mental deterioration. These signs are caused
R O, Brady +3 more
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Niemann–Pick disease type C in adults
Journal of Inherited Metabolic Disease, 2002AbstractAlthough it is often perceived as a paediatric disorder, significant numbers of patients with Niemann–Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease.
J, Imrie +8 more
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Therapy of Niemann–Pick disease, type C
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2004Niemann-Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair ...
Marc C, Patterson, Frances, Platt
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