About: Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency     Goto   Sponge   NotDistinct   Permalink

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Description
  • Diagnóza deficitu adenylosukcinátlyázy u sedmi polských pacientů na základě stanovení metabolitů, měření enzymové aktivity, analýzy mutací a charakterizace rekombinantních proteinů. (cs)
  • In this study we report diagnostics of seven Polish patients with adenylosuccinate lyase deficiency based on metabolite profiling, enzyme activity measurements, mutation analysis and recombinant protein characterisation
  • In this study we report diagnostics of seven Polish patients with adenylosuccinate lyase deficiency based on metabolite profiling, enzyme activity measurements, mutation analysis and recombinant protein characterisation (en)
Title
  • Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
  • Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency (en)
  • Klinická, biochemická a molekulární studie sedmi polských pacientů s deficitem adenylosukcinátlyázy (cs)
skos:prefLabel
  • Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
  • Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency (en)
  • Klinická, biochemická a molekulární studie sedmi polských pacientů s deficitem adenylosukcinátlyázy (cs)
skos:notation
  • RIV/00216208:11110/08:1773!RIV09-MSM-11110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(GA301/07/0600), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 360134
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11110/08:1773
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • adenylosuccinate lyase; purine metabolism; SAICAriboside; succinyladenosine epileptic encephalopathy; psychomotor retardation with autistic; features (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [83F78D207615]
http://linked.open...i/riv/nazevZdroje
  • Molecular Genetics and Metabolism
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 94
http://linked.open...iv/tvurceVysledku
  • Krijt, Jakub
  • Kmoch, Stanislav
  • Zikánová, Marie
http://linked.open...ain/vavai/riv/wos
  • 000257935000009
http://linked.open...n/vavai/riv/zamer
issn
  • 1096-7192
number of pages
http://localhost/t...ganizacniJednotka
  • 11110
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