This HTML5 document contains 66 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n6http://localhost/temp/predkladatel/
n12http://linked.opendata.cz/resource/domain/vavai/projekt/
n8http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n9http://linked.opendata.cz/ontology/domain/vavai/
n7http://linked.opendata.cz/resource/domain/vavai/zamer/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
n4http://linked.opendata.cz/ontology/domain/vavai/riv/
n11http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00216208%3A11110%2F10%3A7007%21RIV12-MZ0-11110___/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n5http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n19http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n16http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n14http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n18http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n17http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n13http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F10%3A7007%21RIV12-MZ0-11110___
rdf:type
n9:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1136/adc.2009.168096
dcterms:description
The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A->G mutation in the TMEM70 gene. Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A->G mutation in the TMEM70 gene. Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children.
dcterms:title
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
skos:prefLabel
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
skos:notation
RIV/00216208:11110/10:7007!RIV12-MZ0-11110___
n4:aktivita
n16:P n16:Z
n4:aktivity
P(1M0520), P(NS9759), Z(AV0Z50110509), Z(MSM0021620806)
n4:cisloPeriodika
4
n4:dodaniDat
n13:2012
n4:domaciTvurceVysledku
n8:8943222 n8:7786301 n8:6270875 n8:4540344 n8:6989349 n8:5315263 n8:1045261 n8:3909581
n4:druhVysledku
n17:J
n4:duvernostUdaju
n19:S
n4:entitaPredkladatele
n11:predkladatel
n4:idSjednocenehoVysledku
271604
n4:idVysledku
RIV/00216208:11110/10:7007
n4:jazykVysledku
n14:eng
n4:klicovaSlova
ATP synthase; neonatal oneset; 3-methylglutaconic aciduria; hyperammonemia hypospadias
n4:klicoveSlovo
n5:ATP%20synthase n5:neonatal%20oneset n5:3-methylglutaconic%20aciduria n5:hyperammonemia%20hypospadias
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[F42BC038019A]
n4:nazevZdroje
Archives of Disease in Childhood
n4:obor
n18:FG
n4:pocetDomacichTvurcuVysledku
8
n4:pocetTvurcuVysledku
16
n4:projekt
n12:NS9759 n12:1M0520
n4:rokUplatneniVysledku
n13:2010
n4:svazekPeriodika
95
n4:tvurceVysledku
Magner, Martin Kostková, Olga Koch, J. Houštěk, Josef Kmoch, Stanislav Sperl, W. Freissinger, P. Ješina, Pavel Tesařová, Markéta Hansíková, Hana Bodamer, O. van Coster, R. Huemer, Martina Zeman, Jiří Honzík, Tomáš Mayr, Johannes A
n4:wos
000275928900013
n4:zamer
n7:MSM0021620806 n7:AV0Z50110509
s:issn
0003-9888
s:numberOfPages
6
n6:organizacniJednotka
11110