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  • Supplements

BMC Musculoskeletal Disorders publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 14 Supplement 2

6th European Symposium: Steps Forward in Pompe Disease

Meeting abstracts

Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease

Berlin, Germany

23-24 November 2012

The symposium and publication of these proceedings were funded by Genzyme Europe BV, Naarden, The Netherlands.

Additional Information

Oral presentation   Open Access

Autophagy: the pathogenic agent in muscle damage

Nina Raben BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O1 (29 May 2013)

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Oral presentation   Open Access

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

Robert-Yves Carlier BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O2 (29 May 2013)

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Oral presentation   Open Access

Genotype-phenotype: correlations and emerging spectrum

Arnold Reuser BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O3 (29 May 2013)

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Oral presentation   Open Access

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

Tiziana Mongini BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O4 (29 May 2013)

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Oral presentation   Open Access

Limitations of muscle biopsy in Pompe disease

John Vissing BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O5 (29 May 2013)

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Oral presentation   Open Access

Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice

Silvère van der Maarel BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O6 (29 May 2013)

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Oral presentation   Open Access

Future therapeutic options

Arnold Reuser BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O7 (29 May 2013)

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Oral presentation   Open Access

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

Stephanie Austin, Priya Kishnani BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O8 (29 May 2013)

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Oral presentation   Open Access

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

Benedikt Schoser BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O9 (29 May 2013)

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Oral presentation   Open Access

Rationale for adjuvant measures in musculoskeletal diseases

Ulf Gast BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O10 (29 May 2013)

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Oral presentation   Open Access

Pregnancy in Pompe disease

Ursula Plöckinger BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O11 (29 May 2013)

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Oral presentation   Open Access

Standards of care in neuromuscular fields

Volker Straub BMC Musculoskeletal Disorders 2013, 14(Suppl 2):O12 (29 May 2013)

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Poster presentation   Open Access

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

Angela Genge BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P1 (29 May 2013)

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Poster presentation   Open Access

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

Gabriella Horvath, Sandra Sirrs, Sylvia Stockler, Ramona Salvarinova-Zivkovic, Hilary Vallance, Paula Waters BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P2 (29 May 2013)

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Poster presentation   Open Access

Spectrum of Pompe disease in childhood – The Toronto experience

J Raiman, G Bendiak, S Hewson, M Mecija, I Narang, M Saunders BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P3 (29 May 2013)

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Poster presentation   Open Access

Pompe practice survey of Canadian (Ontario) rheumatologists

Carter Thorne, Mark Tarnopolsky BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P4 (29 May 2013)

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Poster presentation   Open Access

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

M Hilz, U Hoppe, S Moeller, J Köhn BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P5 (29 May 2013)

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Poster presentation   Open Access

Cytokines in treated and untreated Pompe patients

N Karabul, S Gökce, M Kirchner, W Mannhardt, E Mengel BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P6 (29 May 2013)

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Poster presentation   Open Access

Pompe disease: the role of MRI

C Pérez Fernández, L Bosanska, U Plöckinger, A Pöllinger BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P7 (29 May 2013)

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Poster presentation   Open Access

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

N Tiling, L Bosanska, G Gossing, H Krieg, A Krebs, S Rosseau, H Schütte, K Irlbacher, U Plöckinger BMC Musculoskeletal Disorders 2013, 14(Suppl 2):P8 (29 May 2013)

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