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

Autophagy: the pathogenic agent in muscle damage

Authors: Nina Raben

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

Content type: Oral presentation

Published on: 29 May 2013
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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

Content type: Oral presentation

Published on: 29 May 2013
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Genotype-phenotype: correlations and emerging spectrum

Authors: Arnold Reuser

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

Content type: Oral presentation

Published on: 29 May 2013
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Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness

Authors: Tiziana Mongini

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

Content type: Oral presentation

Published on: 29 May 2013
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Limitations of muscle biopsy in Pompe disease

Authors: John Vissing

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

Content type: Oral presentation

Published on: 29 May 2013
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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

Content type: Oral presentation

Published on: 29 May 2013
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Future therapeutic options

Authors: Arnold Reuser

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

Content type: Oral presentation

Published on: 29 May 2013
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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

Content type: Oral presentation

Published on: 29 May 2013
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Alglucosidase alfa: 5 years of experience in late-onset Pompe disease

Authors: Benedikt Schoser

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

Content type: Oral presentation

Published on: 29 May 2013
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Rationale for adjuvant measures in musculoskeletal diseases

Authors: Ulf Gast

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

Content type: Oral presentation

Published on: 29 May 2013
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Pregnancy in Pompe disease

Authors: Ursula Plöckinger

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

Content type: Oral presentation

Published on: 29 May 2013
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Standards of care in neuromuscular fields

Authors: Volker Straub

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

Content type: Oral presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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Pompe practice survey of Canadian (Ontario) rheumatologists

Authors: Carter Thorne and Mark Tarnopolsky

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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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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

Content type: Poster presentation

Published on: 29 May 2013
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Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations

Authors: E Barca, O Musumeci, C Rodolico, A Ciranni, G Vita and A Toscano

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P9

Content type: Poster presentation

Published on: 29 May 2013
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Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II

Authors: F Cipullo, S Sampaolo, O Farina, M Simonetti, M Cirillo and G Di Iorio

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P10

Content type: Poster presentation

Published on: 29 May 2013
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Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients

Authors: O Musumeci, M Gaeta, E Barca, A Mileto, G Vita and A Toscano

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P11

Content type: Poster presentation

Published on: 29 May 2013
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Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?

Authors: L Vercelli, E Vittonatto, S Grifoni, L Chiadò-Piat, E Rolle, M Spada, C Danesino, G Comi and T Mongini

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P12

Content type: Poster presentation

Published on: 29 May 2013
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Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)

Authors: R Violano, M Ripolone, V Lucchini, L Villa, M Sciacco, G Comi, P Tonin, M Filosto, S Previtali, T Mongini, L Vercelli, E Vittonatto, A Toscano, O Musumeci, E Barca, C Angelini…

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P13

Content type: Poster presentation

Published on: 29 May 2013
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Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy

Authors: BJ Ebbink, FK Aarsen, CM van Gelder, JMP van den Hout, N Weisglas-Kuperus, J Jaeken, MH Lequin, WFM Arts and AT van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P14

Content type: Poster presentation

Published on: 29 May 2013
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Impact of enzyme replacement therapy on survival in adults with Pompe disease

Authors: Deniz Güngör, Michelle Kruijshaar, Iris Plug, Ralph D’Agostino Sr., Marloes Hagemans, Arnold Reuser and Ans van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P15

Content type: Poster presentation

Published on: 29 May 2013
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Enzyme replacement therapy and fatigue in adults with Pompe disease

Authors: Deniz Güngör, Juna de Vries, Esther Brusse, Michelle Kruijshaar, Linda van den Berg, Wim Hop, Arnold Reuser, Pieter van Doorn, Marloes Hagemans, Iris Plug and Ans van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P16

Content type: Poster presentation

Published on: 29 May 2013
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Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy

Authors: Linda van den Berg, Marein Favejee, Stephan Wens, Michelle Kruijshaar, Francois Karstens, Robert Rozenberg, Stephan Praet, Arnold Reuser, Pim Pijnappel, Johannes Bussmann, Pieter van Doorn, Harm Kuipers and Ans van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P17

Content type: Poster presentation

Published on: 29 May 2013
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Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age

Authors: C van Gelder, M Kroos, L Özkan, I Plug, A Reuser and A van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P18

Content type: Poster presentation

Published on: 29 May 2013
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A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

Authors: C van Gelder, I Plug, M Kroos, A Reuser and A van der Ploeg

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P19

Content type: Poster presentation

Published on: 29 May 2013
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Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit

Authors: Tracey Willis, Mark Roberts, David Hilton-Jones, Ros Quinlivan, Mike Hanna and Volker Straub

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P20

Content type: Poster presentation

Published on: 29 May 2013
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Description of the first two cases of Pompe disease in Bulgaria

Authors: I Tournev, T Chamova, I Sinigerska, V Guergueltcheva, M Gospodinova, P Ganova, R Stoilov, A Todorova and T Todorov

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P21

Content type: Poster presentation

Published on: 29 May 2013
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Walking delay as leading symptom in late-onset Pompe disease

Authors: S Gökce, N Karabul, A Herzog and E Mengel

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P22

Content type: Poster presentation

Published on: 29 May 2013
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Pompe disease- experience from South India

Authors: Lokesh Lingappa, Radha Rama Devi, Alpa Dherai, Catherene Rehder and Priya Kishnani

Citation: BMC Musculoskeletal Disorders 2013 14(Suppl 2):P23

Content type: Poster presentation

Published on: 29 May 2013
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6th European Symposium: Steps Forward in Pompe Disease

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