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

Concatenated PDF 14S2

Content type: Oral presentation

Autophagy: the pathogenic agent in muscle damage

Authors: Nina Raben

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O1

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Advances in imaging for the diagnosis and disease monitoring of Pompe disease

Authors: Robert-Yves Carlier

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O2

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Genotype-phenotype: correlations and emerging spectrum

Authors: Arnold Reuser

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O3

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness

Authors: Tiziana Mongini

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O4

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Limitations of muscle biopsy in Pompe disease

Authors: John Vissing

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O5

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice

Authors: Silvère van der Maarel

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O6

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Future therapeutic options

Authors: Arnold Reuser

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O7

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

Authors: Stephanie Austin and Priya Kishnani

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O8

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Alglucosidase alfa: 5 years of experience in late-onset Pompe disease

Authors: Benedikt Schoser

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O9

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Rationale for adjuvant measures in musculoskeletal diseases

Authors: Ulf Gast

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O10

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Pregnancy in Pompe disease

Authors: Ursula Plöckinger

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O11

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Oral presentation

Standards of care in neuromuscular fields

Authors: Volker Straub

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):O12

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population

Authors: Angela Genge

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P1

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

Authors: Gabriella Horvath, Sandra Sirrs, Sylvia Stockler, Ramona Salvarinova-Zivkovic, Hilary Vallance and Paula Waters

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P2

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Spectrum of Pompe disease in childhood – The Toronto experience

Authors: J Raiman, G Bendiak, S Hewson, M Mecija, I Narang and M Saunders

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P3

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Pompe practice survey of Canadian (Ontario) rheumatologists

Authors: Carter Thorne and Mark Tarnopolsky

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P4

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Stapedius reflex testing shows altered small muscle function in untreated Pompe patients and improvement after enzyme replacement therapy

Authors: M Hilz, U Hoppe, S Moeller and J Köhn

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P5

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Cytokines in treated and untreated Pompe patients

Authors: N Karabul, S Gökce, M Kirchner, W Mannhardt and E Mengel

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P6

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Pompe disease: the role of MRI

Authors: C Pérez Fernández, L Bosanska, U Plöckinger and A Pöllinger

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P7

Published on: 29 May 2013
- View Full Text
- View PDF
Content type: Poster presentation

Successful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT)

Authors: N Tiling, L Bosanska, G Gossing, H Krieg, A Krebs, S Rosseau, H Schütte, K Irlbacher and U Plöckinger

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P8

Published on: 29 May 2013
- View Full Text
- View PDF

BMC Musculoskeletal Disorders

6th European Symposium: Steps Forward in Pompe Disease

Meeting abstracts

Autophagy: the pathogenic agent in muscle damage

Advances in imaging for the diagnosis and disease monitoring of Pompe disease

Genotype-phenotype: correlations and emerging spectrum

Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness

Limitations of muscle biopsy in Pompe disease

Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice

Future therapeutic options

Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

Alglucosidase alfa: 5 years of experience in late-onset Pompe disease

Rationale for adjuvant measures in musculoskeletal diseases

Pregnancy in Pompe disease

Standards of care in neuromuscular fields

Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

Spectrum of Pompe disease in childhood – The Toronto experience

Pompe practice survey of Canadian (Ontario) rheumatologists

Stapedius reflex testing shows altered small muscle function in untreated Pompe patients and improvement after enzyme replacement therapy

Cytokines in treated and untreated Pompe patients

Pompe disease: the role of MRI

Successful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT)

Follow

2016 Journal Metrics

BMC Musculoskeletal Disorders

Contact us