Titre :
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International Pompe Conference 2003 - Vol 1-2
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Auteurs :
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International Pompe Conference (1-2 Novembre 2003; Heidelberg, Germany) ;
Lindner M ;
Schaller TH ;
van der Ploeg A ;
Erny H ;
O'Donnell K ;
Eymard B ;
Laforet P ;
Mueller Felber W ;
Raben N ;
Reuser A ;
Hopwood J ;
Mellies U ;
Bodamer O ;
Slonim A ;
Wolf B ;
Hagemans M ;
Winkel L ;
Arnold CR
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Type de document :
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Multimédia
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Editeur :
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Buren : Selbsthilfegruppe Glykogenose Deutschlande e.V, 2003
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Langues:
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Anglais
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Mots-clés :
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colloque
;
conférence d'experts
;
enfant
;
essai clinique
;
gène GAA
;
maladie de Pompe
;
parent
;
thérapie génique
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Résumé :
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Vol-1 -Welcome -Patient relations and Basics of Pompe Disease -Patient relations and Basics of Pompe Disease -Patient relations : the work of the International Pompe Association -How early onset (infants, children) Pompe patients present -How late onset (juveniles, adults) Pompe patients presents -Insights into Pompe's Disease -Pathology and Molecular Aspects -Magnetic resonance imaging for the detection of glycogen storage in Pompe's disease -Muscle pathology in Pompe's disease -Replacing a deficient enzyme in Pompe disease : Two apporaches, one result -Significance of molecular analysis -Early detection of Pompe Disease Vol 2 -Muscle Dysfunction and Metabolism -Metabolic aspecs of Pompe's disease -Effects of L-Alanine in Glycogen Storage DIsease type II -Condition, Management and Therapeutic Intervention -Condition of Patient IPA/Erasmus MC Pompe questionnaire -Workshop : Physical Therapy -Testing of muscle strength and motor performance in patients with Pompe's disease -Benefits of physical therapy for adult onset Pompe patients Vol -4 -Experiences of a juvenile Pompe patient under treatment (video presentation) -Gene Therapy - Potential of gene therapy for GSD-II - Discussion of Session C4
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