"louis-bars syndrom" or "ataxia telangiectasia" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/ataxia-telangiectasia
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    Dette omfatter en lang rekke variasjoner der både hjerne, lillehjerne, ryggmarg og perifere nerver kan være berørt. Tilstanden kan derfor være vanskelige å ...
  2. 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 ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/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 ...
  4. 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 ...
  5. 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 ...
  6. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/.../ataxia-telangiectasia-at
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    ... blitt mye eldre. Lungesvikt er vanlig dødsårsak. Referanser Ataxia Telangiectasia Mutation Database: http://chromium.liacs.nl/LOVD2/home. ...
  7. 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 ...
  8. 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 • The most common cause of inherited ataxia presenting ... single-strand DNA break repair. [ 20] • 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-us/1097/pdf/1097.pdf
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    ... long life, especially if cardiomyopathy is not present. Ataxia telangiectasia • The most common cause of inherited ataxia presenting ... single-strand DNA break repair. [ 20] • Considered rare. Ataxia telangiectasia-like disorder (ATLD) • Mutations have been noted in ...
  10. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=6&S=6936
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    ... ulike legemidlerSPØRSMÅLEn pasient i 20-årene har diagnosen Ataxia telangiectasia (AT). Som følge av dette er pasienten plaget ... har tidligere også brukt Imodium (loperamid).SVARKort om Ataxia telangiectasia Ataxia telangiectasia (AT) er en sjelden, alvorlig progredierende ...
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