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  1. ... 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 ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... nlm.nih.gov/pubmed/10919740?tool=bestpractice.com ataxia telangiectasia This autosomal-recessive condition, which results in cerebellar ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... DiGeorge syndrome); and neurological involvement (may occur in ataxia-telangiectasia). Lung auscultation may reveal evidence of bronchiectasis (crackles, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... DiGeorge syndrome); and neurologic involvement (may occur in ataxia-telangiectasia). Lung auscultation may reveal evidence of bronchiectasis (crackles, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... 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, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... 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; ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... radiosensitive (e.g., with common variable immunodeficiency [CVID], ataxia-telangiectasia, and related disorders) and more prone to malignancy ... Certain hypogammaglobulinemias are associated with radiosensitivity (e.g., ataxia-telangiectasia, CVID [42] Vorechovsky I, Scott D, Haeney MR, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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