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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F08%3A1773%21RIV09-MSM-11110___
rdf:type
skos:Concept n9:Vysledek
dcterms:description
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 Diagnóza deficitu adenylosukcinátlyázy u sedmi polských pacientů na základě stanovení metabolitů, měření enzymové aktivity, analýzy mutací a charakterizace rekombinantních proteinů.
dcterms: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 Klinická, biochemická a molekulární studie sedmi polských pacientů s deficitem adenylosukcinátlyázy
skos:prefLabel
Klinická, biochemická a molekulární studie sedmi polských pacientů s deficitem adenylosukcinátlyázy 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
skos:notation
RIV/00216208:11110/08:1773!RIV09-MSM-11110___
n3:aktivita
n15:P n15:Z
n3:aktivity
P(GA301/07/0600), Z(MSM0021620806)
n3:cisloPeriodika
4
n3:dodaniDat
n7:2009
n3:domaciTvurceVysledku
n4:9185283 n4:4181263 n4:3909581
n3:druhVysledku
n13:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
360134
n3:idVysledku
RIV/00216208:11110/08:1773
n3:jazykVysledku
n12:eng
n3:klicovaSlova
adenylosuccinate lyase; purine metabolism; SAICAriboside; succinyladenosine epileptic encephalopathy; psychomotor retardation with autistic; features
n3:klicoveSlovo
n6:psychomotor%20retardation%20with%20autistic n6:purine%20metabolism n6:succinyladenosine%20epileptic%20encephalopathy n6:features n6:SAICAriboside n6:adenylosuccinate%20lyase
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[83F78D207615]
n3:nazevZdroje
Molecular Genetics and Metabolism
n3:obor
n16:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
10
n3:projekt
n10:GA301%2F07%2F0600
n3:rokUplatneniVysledku
n7:2008
n3:svazekPeriodika
94
n3:tvurceVysledku
Krijt, Jakub Kmoch, Stanislav Zikánová, Marie
n3:wos
000257935000009
n3:zamer
n5:MSM0021620806
s:issn
1096-7192
s:numberOfPages
8
n19:organizacniJednotka
11110