Results 161 to 170 of about 24,478,248 (209)
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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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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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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 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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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 type C disease in a child
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2017The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease.
E S, Novikova +5 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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JAMA, 1996
SELECTED CASES Patient 1 A full-term girl was born after normal pregnancy and delivery. Starting in the first few days of life, she developed prolonged neonatal jaundice with hepatosplenomegaly. Total bilirubin level was 92 μmol/L (5.4 mg/dL) at 10 weeks of age. The direct fraction was 52 μmol/L (2.9 mg/dL). By 10 months of age, the jaundice resolved.
S, Akaboshi, K, Ohno
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SELECTED CASES Patient 1 A full-term girl was born after normal pregnancy and delivery. Starting in the first few days of life, she developed prolonged neonatal jaundice with hepatosplenomegaly. Total bilirubin level was 92 μmol/L (5.4 mg/dL) at 10 weeks of age. The direct fraction was 52 μmol/L (2.9 mg/dL). By 10 months of age, the jaundice resolved.
S, Akaboshi, K, Ohno
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NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE C
Journal of Neuropathology and Experimental Neurology, 1995Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many parts of the brain. Tangles were a consistent finding in the hippocampus, hypothalamus, substantia innominata, midbrain pons and medulla.
S, Love, L R, Bridges, C P, Case
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