| NP | nasopharynx, nasopharyngeal; near point; necrotizing pancreatitis; neonatal-perinatal; neuritic plag... |
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| NPD | narcissistic personality disorder; natriuretic plasma dialysate; negative pressure device; Niemann-P... |
| NPC | NIEMANN: Pick disease type C |
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| NPD | Niemann Pick disease |
| NP-C | Niemann-Pick Type C |
| Niemann disease | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |
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| Niemann's splenomegaly | Enlargement of spleen occurring in Niemann-Pick disease. (05 Mar 2000) |
| Niemann, Albert | <person> German physician, 1880-1921. See: Niemann-Pick cell, Niemann-Pick disease, Niemann disease, Niemann's splenomegaly. (05 Mar 2000) |
| Niemann-Pick cell | A relatively large, rounded or polygonal, mononuclear cell, with indistinctly or palely staining, foamlike cytoplasm that contains numerous droplets of a phosphatide, sphingomyelin; such cell's are widely distributed in the spleen and other tissues, especially those rich in reticuloendothelial components, in patients with Niemann-Pick disease. Synonym: Niemann-Pick cell. (05 Mar 2000) |
| Niemann-Pick disease | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |
Synonyms : Classical Niemann-Pick Disease, Niemann-Pick Disease, Acute Neuronopathic Form, Niemann-Pick Disease, Acute Neurovisceral Form, Niemann-Pick Disease, Neuronopathic Type, Niemann-Pick's Disease Type A, Type A Niemann-Pick Disease, Niemann Pick Disease, Type A
Synonyms : Niemann-Pick Disease, Adult Non-Neuronopathic, Niemann-Pick Disease, Non-Neuronopathic Type, Niemann-Pick Disease, Type E, Niemann-Pick Disease, Visceral, Niemann-Pick's Disease Type B, Niemann-Pick's Disease Type E, Type B Niemann-Pick Disease
Synonyms : Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease with Cholesterol Esterification Block, Niemann-Pick Disease without Sphingomyelinase Deficiency, Niemann-Pick Disease, Chronic Neuronopathic Form
Synonyms : Niemann Pick Disease, Niemann Pick Diseases
| Niemann-Pick disease |
a disorder of lipid metabolism that is inherited as an autosomal recessive trait
Ãâó: wordnet.princeton.edu/perl/webwn
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| Niemann's d. |
a lysosomal storage disease due to a deficiency of sphingomyelin phosphodiesterase with sphingomyelin accumulation in the reticuloendothelial system. There are five types distinguished by age of onset and by the amount of CNS involvement and of sphingomyelin phosphodiesterase activity. Type A (acute neuronopathic) in the classic type, accounting for 85 per cent of the patients: onset is in early infancy; CNS damage is severe; death occurs by 4 years. Type B (chronic nonneuronopathic) has onset in early infancy but does not affect the CNS or intelligence; normal life-span is possible. Type C (chronic neuronopathic) has variable ages of onset (at 2 years or older) and of death (from age 5 to adulthood) and variable CNS involvement. Type D (the Nova Scotia variant) resembles type C; type E (the adult, nonneuronopathic form) may be a late-onset variant of type C. Called also sphingomyelin lipidosis and sphingomyelinase deficiency.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Niemann's disease |
Niemann-Pick disease; see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Niemann-Pick c.’s |
round, oval, or polyhedral cells present in the bone marrow and spleen in Niemann-Pick disease; they have foamy, lipid-containing cytoplasm, in the form of sphingomyelin, which gives a positive reaction with Sudan III and other fat stains. Called also Pick c's.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Niemann-Pick cells, disease |
see under cell and disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Niemann | a disorder of lipid metabolism that is inherited as an autosomal recessive trait |
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