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  1. ... al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 ... al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... may be positive for amyloid Amyloidosis Gaucher or Niemann-Pick disease History Exam 1st investigation Other investigations Ashkenazi Jewish ... may be positive for amyloid Amyloidosis Gaucher or Niemann-Pick disease History Exam 1st investigation Other investigations Ashkenazi Jewish ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  3. ... be positive for amyloid Amyloidosis Gaucher's or Niemann-Pick disease History Exam 1st investigation Other investigations Ashkenazi Jewish ... be positive for amyloid Amyloidosis Gaucher's or Niemann-Pick disease History Exam 1st investigation Other investigations Ashkenazi Jewish ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  4. ... NARP, KSS). More rare mutations may go undetected. Niemann-Pick disease type C (NP-C) History Exam 1st investigation ... NARP, KSS). More rare mutations may go undetected. Niemann-Pick disease type C (NP-C) History Exam 1st investigation ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  5. ... nlm.nih.gov/pubmed/10546962?tool=bestpractice.com Niemann-Pick disease type C Case reports. [30] Kandt RS, Emerson ... HS, et al. Cataplexy in variant forms of Niemann-Pick disease. Ann Neurol. 1982 Sept;12(3):284-8. ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... ERT is not available for Tay-Sachs disease. Niemann-Pick diseases Palliative care only is required for the severe ... al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... odour. INVESTIGATIONS Elevated succinylacetone in blood or urine. Niemann-Pick disease SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hepatosplenomegaly usually without ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... s, Gaucher's, and Fabry's diseases. [ 24] Niemann-Pick disease (NPD) types A and B are due to ... respiratory difficulty, fatigue, joint contracture, and depression. [ 41] Niemann-Pick disease • Presentation will depend on type: hepatosplenomegaly in types ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... tumours. [ 17] [ 27] [ 28] [ 29] An association with Niemann-Pick disease type C, [ 30] [ 31] Norrie's disease, [ 32] ... g., obesity in Prader-Willi syndrome, hepatomegaly in Niemann-Pick disease, and paresis in multiple sclerosis). Diagnostic tests Although ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... size, resolves the cytopenias, and improves bone density. Niemann-Pick disease • Caused by an abnormality, or a deficiency, of ... these patients. Lysosomal storage Patients with Gaucher or Niemann-Pick disease may present with hepatosplenomegaly, pancytopenia, and bone pain. ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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