About: RFT1-CDG in adult siblings with novel mutations

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About: RFT1-CDG in adult siblings with novel mutations Goto Sponge NotDistinct Permalink

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://www.sciencedirect.com/science/article/pii/S1096719212003691
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. (en)
Title	RFT1-CDG in adult siblings with novel mutations RFT1-CDG in adult siblings with novel mutations (en)
skos:prefLabel	RFT1-CDG in adult siblings with novel mutations RFT1-CDG in adult siblings with novel mutations (en)
skos:notation	RIV/00064165:_____/12:11857!RIV13-MZ0-00064165
http://linked.open...avai/predkladatel	Všeobecná fakultní nemocnice v Praze
http://linked.open...avai/riv/aktivita	P S
http://linked.open...avai/riv/aktivity	P(NT12166), S
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Zeman, Jiří Honzík, Tomáš Magner, Martin Veselá, Kateřina Ondrušková, Nina 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	165528
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/12:11857
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	RFT1-CDG; lipid-linked oligosaccharide; deafness (en)
http://linked.open.../riv/klicoveSlovo	deafness RFT1-CDG lipid-linked oligosaccharide
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[597701D296D8]
http://linked.open...i/riv/nazevZdroje	Molecular Genetics and Metabolism
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	The study of the bases of congenital disorders of glycosylation
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	107
http://linked.open...iv/tvurceVysledku	Honzík, Tomáš Magner, Martin Zeman, Jiří Veselá, Kateřina Hansíková, Hana Ondrušková, Nina
http://linked.open...ain/vavai/riv/wos	000311816200020
issn	1096-7192
number of pages	3 (xsd:int)
is http://linked.open...avai/riv/vysledek of	RFT1-CDG in adult siblings with novel mutations

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