Niemann-picks sykdom Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/guidelines
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    ... 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 ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/895/differentials
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    ... 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 ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/895/differentials
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    ... 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 ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/differentials
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    ... 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 ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/428/history-exam
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    ... 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. ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/management-approach
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    ... 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 ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/management-approach
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    ... 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 ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/739/differentials
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    ... odour. INVESTIGATIONS Elevated succinylacetone in blood or urine. Niemann-Pick disease SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hepatosplenomegaly usually without ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/739/differentials
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    ... odor. INVESTIGATIONS Elevated succinylacetone in blood or urine. Niemann-Pick disease SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hepatosplenomegaly usually without ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/pdf/1021.pdf
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    ... 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 ...
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