"louis-bars syndrom" or "ataxia telangiectasia" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/differentials
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    ... nerve conduction tests: absent sensory nerve action potentials Ataxia telangiectasia History Exam 1st investigation Other investigations onset of ... nerve conduction tests: absent sensory nerve action potentials Ataxia telangiectasia History Exam 1st investigation Other investigations onset of ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/312/history-exam
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    ... nlm.nih.gov/pubmed/7996359?tool=bestpractice.com ataxia-telangiectasia There is an association with hereditary immunodeficiency syndromes. [ ... Salinas F, Ortega G, Molina M, et al. Ataxia-telangiectasia with immunodeficiency and malignant lymphoma: report of two ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/312/history-exam
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    ... nlm.nih.gov/pubmed/7996359?tool=bestpractice.com ataxia-telangiectasia There is an association with hereditary immunodeficiency syndromes. [ ... Salinas F, Ortega G, Molina M, et al. Ataxia-telangiectasia with immunodeficiency and malignant lymphoma: report of two ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/717/history-exam
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    ... nlm.nih.gov/pubmed/10919740?tool=bestpractice.com ataxia telangiectasia This autosomal-recessive condition, which results in cerebellar ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1058/pdf/1058.pdf
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    ... DiGeorge syndrome); and neurological involvement (may occur in ataxia-telangiectasia). Lung auscultation may reveal evidence of bronchiectasis (crackles, ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/pdf/1097.pdf
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    ... long life, especially if cardiomyopathy is not present. Ataxia telangiectasia 6 This PDF of the BMJ Best Practice ... single-strand DNA break repair. [ 22] • Considered rare. Ataxia telangiectasia-like disorder (ATLD) • Mutations have been noted in ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1058/pdf/1058.pdf
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    ... DiGeorge syndrome); and neurologic involvement (may occur in ataxia-telangiectasia). Lung auscultation may reveal evidence of bronchiectasis (crackles, ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1097/pdf/1097.pdf
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    ... long life, especially if cardiomyopathy is not present. Ataxia telangiectasia 6 This PDF of the BMJ Best Practice ... single-strand DNA break repair. [ 22] • Considered rare. Ataxia telangiectasia-like disorder (ATLD) • Mutations have been noted in ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1058/complications
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    ... radiosensitive (e.g., with common variable immunodeficiency [CVID], ataxia-telangiectasia, and related disorders) and more prone to malignancy ... Certain hypogammaglobulinaemias are associated with radiosensitivity (e.g., ataxia-telangiectasia, CVID [40] Vorechovsky I, Scott D, Haeney MR, ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/aetiology
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    ... long life, especially if cardiomyopathy is not present. Ataxia telangiectasia The most common cause of inherited ataxia presenting ... 24] Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003 Sep; ...
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