About: European structure for coordination of research and diagnosis of inherited purine and pyrimidine disorders     Goto   Sponge   NotDistinct   Permalink

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Description
  • Inborn errors of purine and pyrimidine metabolism represent quite new disorders.The number of the enzyme defects has increased rapidly and now totals more than twenty.Understandably,knowledge at the clinical level has been unable to keep pace,a problem compounded by the broad spectrum of presentation and genetic heterogeneity. Their recent description means that awareness is limited and they are little known on Europe and frequently misdianosed.Objectives: a) To collect informations about purine and pyrimidine (PP) disorders in Czech republic and create a network of people with special knowledge of these disorders and the experience required for their diagnosis, b) To increase awareness of these disorders among clinicians (courses, chaptes in textbook),c)To set up diagnostic procedure for gout and hypouricemia,d)To diagnose new patients,e)To participate on mapping the gene for familial juvenile hyperuricemic nephropathy-cooperation with Purine Lab,UK f) distribute inf. among ESSPPMM members (en)
  • Cílem projektu je vytvořit síť specilizovaných pracovníků pro včasnou diagnostiku dědičných metabolických poruch purinů a pyrimidinů a zlepšit diagnostické možnosti v ČR. Jedná se o nová onemocnění objevená v posledních dvaceti letech.Znalosti na úrovni biochemické a genetické často předbíhají úroveň klinickou. Cílem je zavést komplexní soubor vyšetřovacíhc metod pro DMP P/P.
Title
  • European structure for coordination of research and diagnosis of inherited purine and pyrimidine disorders (en)
  • Evropská strukturch metabolickýcha diagnostiky a výzkumu dědičných metabolických poruch purinů a pyrimidinů.
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  • OK 352
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  • Purine,pyrimidine,inborn errors,metabolism,familial juvenile hyperuricemic nephropathy,diagnosis. (en)
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  • Jedná se o nová onemocnění objevená v posledních dvaceti letech.Znalosti na úrovni biochemické a genetické často předbíhají úroveň klinickou. (cs)
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http://linked.open.../cep/klicoveSlovo
  • metabolism
  • pyrimidine
  • Purine
  • familial juvenile hyperuricemic nephropathy
  • inborn errors
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