About: DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY     Goto   Sponge   NotDistinct   Permalink

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Description
  • Two families with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by immunostaining in cultured fibroblasts and muscle biopsies. Partial reduction of aGal A activity, despite the absence of characteristis clinical features of Fabry disease.
  • Two families with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by immunostaining in cultured fibroblasts and muscle biopsies. Partial reduction of aGal A activity, despite the absence of characteristis clinical features of Fabry disease. (en)
Title
  • DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
  • DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY (en)
skos:prefLabel
  • DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
  • DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY (en)
skos:notation
  • RIV/00216208:11110/09:3799!RIV10-MSM-11110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 309020
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11110/09:3799
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • cardiomyopathy; Danon disease; Fabry disease; LAMP2; alpha-galactosidase A; lamp-2 gene mutation; linked vacuolar cardiomyopathy; hypertrophic cardiomyopathy; fabry-disease; myopathy; storage; family; plasma; d313y; decay (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [1EA90F4F375F]
http://linked.open...i/riv/nazevZdroje
  • Muscle & Nerve
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 39
http://linked.open...iv/tvurceVysledku
  • Elleder, Milan
  • Levade, Thierry
  • Michelakakis, Helen
  • Anastasakis, Aris
  • Garcia, Virginie
  • Manta, Panagiota
  • Mavridou, Irene
  • Moraitou, Marina
  • Nieto, Michele
  • Pons, MC
  • Sabourdy, Frederique
  • Skiadas, C.
http://linked.open...ain/vavai/riv/wos
  • 000266360100015
http://linked.open...n/vavai/riv/zamer
issn
  • 0148-639X
number of pages
http://localhost/t...ganizacniJednotka
  • 11110
is http://linked.open...avai/riv/vysledek of
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