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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A3101%21RIV10-MZ0-11110___
rdf:type
skos:Concept n13:Vysledek
dcterms: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.
dcterms: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
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
skos:notation
RIV/00216208:11110/09:3101!RIV10-MZ0-11110___
n3:aktivita
n4:Z n4:P
n3:aktivity
P(GD303/03/H065), Z(MSM0021620806), Z(MZ0VFN2005)
n3:cisloPeriodika
4
n3:dodaniDat
n8:2010
n3:domaciTvurceVysledku
n6:2876361 n6:6138225 n6:9597832 n6:8065659 n6:2311208 n6:5669243 n6:5079764 n6:9000402
n3:druhVysledku
n9:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
337213
n3:idVysledku
RIV/00216208:11110/09:3101
n3:jazykVysledku
n11:eng
n3:klicovaSlova
sphingolipid activator proteins; prosaposin; urinary lipids; mass spectrometry; PSAP gene; saposin deficiency; metachromatic leukodystrophy
n3:klicoveSlovo
n5:PSAP%20gene n5:metachromatic%20leukodystrophy n5:saposin%20deficiency n5:sphingolipid%20activator%20proteins n5:mass%20spectrometry n5:prosaposin n5:urinary%20lipids
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[C0946BB19C64]
n3:nazevZdroje
American Journal of Medical Genetics - Part A
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
8
n3:pocetTvurcuVysledku
15
n3:projekt
n18:GD303%2F03%2FH065
n3:rokUplatneniVysledku
n8:2009
n3:svazekPeriodika
149A
n3:tvurceVysledku
Ledvinová, Jana Chrastina, Petr Mayrhofer, Heidi Staudt, Martin Dvořáková, Lenka Hřebíček, Martin Befekadu, Asfaw Elleder, Milan Harzer, Klaus Petermöller, Margret Kuchař, Ladislav Berná, Linda Krägeloh-Mann, Ingeborg Myšková, Helena Paton, Barbara C.
n3:wos
000264982900010
n3:zamer
n15:MZ0VFN2005 n15:MSM0021620806
s:issn
1552-4825
s:numberOfPages
9
n16:organizacniJednotka
11110