About: Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

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About: Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Two patients, one with pSap-d and the other with SapB-d having novel PSAP mutation(s) were detected by urinary glycosphingolipid analysis. Tandem mass spectrometry proved to be an efficient screening method showing elevation in multiple sphingolipids. Two patients, one with pSap-d and the other with SapB-d having novel PSAP mutation(s) were detected by urinary glycosphingolipid analysis. Tandem mass spectrometry proved to be an efficient screening method showing elevation in multiple sphingolipids. (en)
Title	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations (en)
skos:prefLabel	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations (en)
skos:notation	RIV/00216208:11110/09:3101!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(GD303/03/H065), Z(MSM0021620806), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Befekadu, Asfaw Myšková, Helena Elleder, Milan Dvořáková, Lenka Hřebíček, Martin Kuchař, Ladislav Ledvinová, Jana Berná, Linda
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	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	337213
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:3101
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	sphingolipid activator proteins; prosaposin; urinary lipids; mass spectrometry; PSAP gene; saposin deficiency; metachromatic leukodystrophy (en)
http://linked.open.../riv/klicoveSlovo	mass spectrometry PSAP gene metachromatic leukodystrophy prosaposin saposin deficiency sphingolipid activator proteins urinary lipids
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[C0946BB19C64]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics - Part A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...vavai/riv/projekt	Interdisciplinary approach to molecular basis of inherited metabolic disorders
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	149A
http://linked.open...iv/tvurceVysledku	Chrastina, Petr Elleder, Milan Dvořáková, Lenka Hřebíček, Martin Kuchař, Ladislav Ledvinová, Jana Befekadu, Asfaw Myšková, Helena Berná, Linda Harzer, Klaus Krägeloh-Mann, Ingeborg Mayrhofer, Heidi Paton, Barbara C. Petermöller, Margret Staudt, Martin
http://linked.open...ain/vavai/riv/wos	000264982900010
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	1552-4825
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

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