About: The influence of ascorbic acid on phenotyp in Charcot Marie Tooth disease type 1A     Goto   Sponge   NotDistinct   Permalink

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Description
  • To evaluate an influence of ascorbic acid on phenotype of CMT1A neuropathy. The cohort of sixty patients will be treated ( AA vs placebo) fot two years. The primary efficacy outcome will be an improvement on CMTNS, electro- physiological parameters, disability ( ONDS) and QoL ( SF 36). (en)
  • Stanovení vlivu kyseliny askorbové na fenotyp osob s chorobou Charcot Marie Tooth 1A. Na souboru 60 osob bude sledován vliv kys.askorbové proti placebu během 24 měsíců. Hodnoceny jsou klinické škály CMTNS, dále EMG a dotazník SF 36. Cílem je změna fenotypu o 1 stupeň na škále CMTNS.
Title
  • The influence of ascorbic acid on phenotyp in Charcot Marie Tooth disease type 1A (en)
  • Vliv kyseliny askorbové na fenotyp hereditární neuropatie Charcot Marie Tooth typ 1A
skos:notation
  • NR9517
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  • hereditary neuropathy; CMT; phenotype; electromyography; ascorbic acid; gene PMP 22 expression; CMTNS scale; experimental models (en)
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  • Autoři prokázali, že podávání kyselina askorbové žádným způsobem nezlepšuje klinické a elektrofyziologické parametry periferních nervů u onemocnění HSMN typu CMT1a. (cs)
  • The authors confirmed that the treatment with the ascorbic acid does not improve clinical and electrophysiological parameters of the peripheral nerves in the CMT1a hereditary neuropathy. (en)
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  • phenotype
  • CMT
  • CMTNS scale
  • ascorbic acid
  • electromyography
  • gene PMP 22 expression
  • hereditary neuropathy
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