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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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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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Neurology, 1996
To the Editor: Shulman et al. [1] draw attention to the late presentation of Niemann-Pick disease, type C (NPC). Some aspects of their paper deserve amplification. The authors allude to abnormal intracellular cholesterol metabolism in their introduction but then distinguish NPC from Niemann-Pick disease types A and B on the basis of sphingomyelinase ...
Marc C. Patterson, Peter G. Pentchev
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To the Editor: Shulman et al. [1] draw attention to the late presentation of Niemann-Pick disease, type C (NPC). Some aspects of their paper deserve amplification. The authors allude to abnormal intracellular cholesterol metabolism in their introduction but then distinguish NPC from Niemann-Pick disease types A and B on the basis of sphingomyelinase ...
Marc C. Patterson, Peter G. Pentchev
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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 type C].
Nihon rinsho. Japanese journal of clinical medicine, 1996Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not yet been clarified. Diagnostic biochemical makers are intracellular accumulation of free cholesterol or the decreased esterification of exogenous cholesterol.
S, Akaboshi, K, Ohno
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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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