Titre :
|
Steps forward in Pompe disease. Abstracts of the 6th European Symposium. Berlin, Germany. November 23-24, 2012
|
Revue :
|
BMC musculoskeletal disorders
|
Auteurs :
|
Carlier RY ;
Mongini T ;
Vissing J ;
van der Maarel S ;
Reuser A ;
Austin S ;
Kishnani P ;
Schoser B ;
Gast U ;
Plöckinger U ;
Straub V ;
Raben N
|
Type de document :
|
Article
|
Année de publication :
|
2013
|
Pages :
|
14, suppl 2, 01-12
|
Langues:
|
Anglais
|
Mots-clés :
|
autophagie
;
biopsie musculaire
;
colloque
;
corrélation génotype-phénotype
;
diagnostic
;
faiblesse musculaire
;
grossesse
;
maladie de Pompe
;
maladie de Pompe à début tardif
;
maltase acide
;
muscle squelettique
;
séquençage
;
traumatisme musculaire
|
Résumé :
|
Meeting abstracts : 01-Autophagy: the pathogenic agent in muscle damage. 02-Advances in imaging for the diagnosis and disease monitoring of Pompe disease. 03-Genotype-phenotype: correlations and emerging spectrum. 04-Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness. 05-Limitations of muscle biopsy in Pompe disease. 06-Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice. 07-Future therapeutic options. 08-Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease. 09-Alglucosidase alfa: 5 years of experience in late-onset Pompe disease. 10-Rationale for adjuvant measures in musculoskeletal diseases. 11-Pregnancy in Pompe disease. 12-Standards of care in neuromuscular fields.
|
Lien associé :
|
Texte complet disponible sur PubMed Central (PMC)
|
Pubmed / DOI :
|
Pubmed : 23763753 / DOI : 10.1186/1471-2474-14-s2-o1
|