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rdf:type
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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)
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Title
| - DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
- DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY (en)
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skos:prefLabel
| - DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
- DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY (en)
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skos:notation
| - RIV/00216208:11110/09:3799!RIV10-MSM-11110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11110/09:3799
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http://linked.open...riv/jazykVysledku
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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)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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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.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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