About: Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation

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About: Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation 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
Description	Kazuistika bezvětšiny příznaků pouze s očním postižením bez obvyklé psychomotorické deteriorace. (cs) The case of this patient with ML IV is unique and is characterized by a curious lack of generalized symptoms. In this patient, the disorder was limited to the eyes and appeared without the usual psychomotor deterioration. The resulting phenotype is the m The case of this patient with ML IV is unique and is characterized by a curious lack of generalized symptoms. In this patient, the disorder was limited to the eyes and appeared without the usual psychomotor deterioration. The resulting phenotype is the m (en)
Title	Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation Mucolipidosis IV kazuistika. (cs) Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation (en)
skos:prefLabel	Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation Mucolipidosis IV kazuistika. (cs) Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation (en)
skos:notation	RIV/00064203:_____/07:1526!RIV08-MZ0-00064203
http://linked.open.../vavai/riv/strany	663-671
http://linked.open...avai/riv/aktivita	S Z
http://linked.open...avai/riv/aktivity	S, Z(MSM0021620806), Z(MZ000064203), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2008
http://linked.open...aciTvurceVysledku	Kraus, Josef
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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	435537
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/07:1526
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ashkenazi jewish population; abnormal transport; natural-history; messenger-rna; mild variant; lysosomal ph; gene; fibroblasts; disease; protein (en)
http://linked.open.../riv/klicoveSlovo	abnormal transport ashkenazi jewish population lysosomal ph mild variant disease gene natural-history protein messenger-rna fibroblasts
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D7937578046A]
http://linked.open...i/riv/nazevZdroje	American Journal of Ophthalmology
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	143
http://linked.open...iv/tvurceVysledku	Kraus, Josef
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje Klinicko-genetická studie poruch prenatálního a postnatálního vývoje k časné prevenci, diagnóze a léčbě těžkých VVV, chorob a nádorů s genetickou dispozicí
issn	0002-9394
number of pages	9 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation

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