About: Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://pmr.cuni.cz/file/5579/pmr2011a0002.pdf
Description	The aim fo this study was to describe distinct course of the disease in two boys with mutations in PDHA1 gene and illustrate the possible obstacles in measurement of PDHc activity. Clinical data and metabolic profiles were collected and evaluated. PDHc and E1alpha-subunit activities were measured using radiometric assay. Subunits od PDHc were detected by Western blot. PDHA1 gene was analysed by direct sequencing. The aim fo this study was to describe distinct course of the disease in two boys with mutations in PDHA1 gene and illustrate the possible obstacles in measurement of PDHc activity. Clinical data and metabolic profiles were collected and evaluated. PDHc and E1alpha-subunit activities were measured using radiometric assay. Subunits od PDHc were detected by Western blot. PDHA1 gene was analysed by direct sequencing. (en)
Title	Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene (en)
skos:prefLabel	Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene (en)
skos:notation	RIV/00064165:_____/11:8869!RIV12-MZ0-00064165
http://linked.open...avai/predkladatel	Všeobecná fakultní nemocnice v Praze
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NS9774), P(NT11186), Z(MSM0021620806), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Wenchich, László Vaněčková, Manuela Zeman, Jiří Ješina, Pavel Honzík, Tomáš Tesařová, Markéta Magner, Martin Hansíková, Hana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	236342
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/11:8869
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Pyruvate dehydrogenase; E1alpha-subunit; PDHA1 gene; Mutation c.857C>T, c.367C>T (en)
http://linked.open.../riv/klicoveSlovo	E1alpha-subunit Mutation c.857C>T PDHA1 gene Pyruvate dehydrogenase c.367C>T
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[776A5F41F7B8]
http://linked.open...i/riv/nazevZdroje	Prague Medical Report
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	12 (xsd:int)
http://linked.open...vavai/riv/projekt	Roles of oxidative stress and antioxidative systems in antracycline induced chronic cardiotoxicity in adult patients. Mitochondrial energetic metabolism in neonatal period
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	112
http://linked.open...iv/tvurceVysledku	Hájková, Zuzana Vaněčková, Manuela Wenchich, László Honzík, Tomáš Ješina, Pavel Magner, Martin Tesařová, Markéta Zeman, Jiří Adam, T. Hansíková, Hana Smolka, V. Vinšová, Kamila
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Diagnosis and treatment of inherited disorders II
issn	1214-6994
number of pages	11 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene

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