Volume 14 Supplement 2
6th European Symposium: Steps Forward in Pompe Disease
Meeting abstracts
The symposium and publication of these proceedings were funded by Genzyme Europe BV, Naarden, The Netherlands.
Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease.
Berlin, Germany23-24 November 2012
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Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O1
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Advances in imaging for the diagnosis and disease monitoring of Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O2 -
Genotype-phenotype: correlations and emerging spectrum
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O3 -
Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O4 -
Limitations of muscle biopsy in Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O5 -
Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O6 -
Future therapeutic options
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O7 -
Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O8 -
Alglucosidase alfa: 5 years of experience in late-onset Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O9 -
Rationale for adjuvant measures in musculoskeletal diseases
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O10 -
Pregnancy in Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O11 -
Standards of care in neuromuscular fields
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O12 -
Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P1 -
Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P2 -
Spectrum of Pompe disease in childhood – The Toronto experience
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P3 -
Pompe practice survey of Canadian (Ontario) rheumatologists
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P4 -
Stapedius reflex testing shows altered small muscle function in untreated Pompe patients and improvement after enzyme replacement therapy
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P5 -
Cytokines in treated and untreated Pompe patients
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P6 -
Pompe disease: the role of MRI
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P7 -
Successful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT)
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P8 -
Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P9 -
Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P10 -
Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P11 -
Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P12 -
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P13 -
Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P14 -
Impact of enzyme replacement therapy on survival in adults with Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P15 -
Enzyme replacement therapy and fatigue in adults with Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P16 -
Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P17 -
Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P18 -
A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P19 -
Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P20 -
Description of the first two cases of Pompe disease in Bulgaria
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P21 -
Walking delay as leading symptom in late-onset Pompe disease
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P22 -
Pompe disease- experience from South India
Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P23
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