This HTML5 document contains 50 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/
n18http://linked.opendata.cz/resource/domain/vavai/projekt/
n4http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n14http://linked.opendata.cz/resource/domain/vavai/subjekt/
n13http://linked.opendata.cz/ontology/domain/vavai/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
n3http://linked.opendata.cz/ontology/domain/vavai/riv/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n6http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00064165%3A_____%2F12%3A11857%21RIV13-MZ0-00064165/
n7http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n15http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n19http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n5http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n17http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n16http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n12http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A11857%21RIV13-MZ0-00064165
rdf:type
n13:Vysledek skos:Concept
rdfs:seeAlso
http://www.sciencedirect.com/science/article/pii/S1096719212003691
dcterms:description
We report on two young adult siblings with extremely rare RFT1-CDG.Similar to the six previously described patients, these siblings have profound intellectual disability but no feeding problems or failure to thrive. Their epilepsy is well controlled and coagulopathy is mild without clinical consequences. In addition, visual acuity is normal in both patients and hearing impairment is present onlyin one. Our findings extend the phenotype associated with RFT1-CDG. We report on two young adult siblings with extremely rare RFT1-CDG.Similar to the six previously described patients, these siblings have profound intellectual disability but no feeding problems or failure to thrive. Their epilepsy is well controlled and coagulopathy is mild without clinical consequences. In addition, visual acuity is normal in both patients and hearing impairment is present onlyin one. Our findings extend the phenotype associated with RFT1-CDG.
dcterms:title
RFT1-CDG in adult siblings with novel mutations RFT1-CDG in adult siblings with novel mutations
skos:prefLabel
RFT1-CDG in adult siblings with novel mutations RFT1-CDG in adult siblings with novel mutations
skos:notation
RIV/00064165:_____/12:11857!RIV13-MZ0-00064165
n13:predkladatel
n14:ico%3A00064165
n3:aktivita
n19:S n19:P
n3:aktivity
P(NT12166), S
n3:cisloPeriodika
4
n3:dodaniDat
n12:2013
n3:domaciTvurceVysledku
n4:9177981 n4:6270875 n4:4383176 n4:5315263 n4:7786301 n4:4540344
n3:druhVysledku
n17:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
165528
n3:idVysledku
RIV/00064165:_____/12:11857
n3:jazykVysledku
n5:eng
n3:klicovaSlova
RFT1-CDG; lipid-linked oligosaccharide; deafness
n3:klicoveSlovo
n7:RFT1-CDG n7:lipid-linked%20oligosaccharide n7:deafness
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[597701D296D8]
n3:nazevZdroje
Molecular Genetics and Metabolism
n3:obor
n16:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
6
n3:projekt
n18:NT12166
n3:rokUplatneniVysledku
n12:2012
n3:svazekPeriodika
107
n3:tvurceVysledku
Ondrušková, Nina Zeman, Jiří Honzík, Tomáš Magner, Martin Veselá, Kateřina Hansíková, Hana
n3:wos
000311816200020
s:issn
1096-7192
s:numberOfPages
3