Volume 30, Supplement A, 2008
Steps Forward in Pompe Disease:
2nd European Symposium
Nice, France
November 9–10, 2007
Guest Editor
Claude Desnuelle, MD, PhD
Centre Hospitalier et Universitaire de Nice
Université de Nice-Sophia Antipolis
UMR CNRS 6549
Hôpital de l’Archet 1
Nice, France
Contents
Foreward
Claude Desnuelle, MD, PhD
[PDF]
Advances in the Diagnosis of Pompe Disease
Olaf Bodamer, MD, PhD, FACMG
[PDF]
Insights into the Pathophysiology of Pompe Disease
Beth Thurberg, MD, PhD
[PDF]
Biomarkers for Pompe Disease
Irène Maire, PhD
[PDF]
Differential Diagnosis and Potential Misdiagnoses of Pompe Disease
Volker Straub, MD
[PDF]
Screening of Newborns for Pompe Disease and/or Other Lysosomal
Storage Disorders
Olaf Bodamer, MD, PhD, FACMG; Victor De Jesus, PhD;
Joan Keutzer, PhD; Kate Zhang, PhD; Wuh-Liang Hwu, MD, PhD; and
Adolf Mühl, PhD
[PDF]
Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive
Pompe Disease
Deyanira Corzo, MD; Barry Byrne, MD, PhD; Wuh-Liang Hwu, MD, PhD;
Nancy Leslie, MD; Hanna Mandel, MD; Marc Nicolino, MD, PhD;
James Wraith, FRCPCH; Claire Morgan, MD, MPH; and Priya Kishnani, MD
[PDF]
Pompe Disease in Children—Early to Mid-stage
Carine van Capelle, MD
[PDF]
Pompe Disease in Adults—Advanced Stage
Djillali Annane, MD; and David Orlikowski, MD
[PDF]
Natural Course and Effects of Enzyme Therapy in Adults with Pompe Disease
Ans van der Ploeg, MD, PhD; Marloes Hagemans, PhD; Nadine van der Beek, MD;
Carine van Capelle, MD; Pieter A. van Doorn, MD, PhD; Pascal Laforêt, MD; and
Arnold J. Reuser, PhD
[PDF]
Pompe Disease: Neurology Perspectives
Wolfgang Müller-Felber, MD
[PDF]
Pompe Disease: Pulmonology Perspectives
Djillali Annane, MD; and David Orlikowski, MD
[PDF]
Nutritional Recommendations for Patients with Glycogen Storage Disease Type II
Corrado Angelini, MD
[PDF]
The Role of Physiotherapy and Exercise in the Management of Patients with
Pompe Disease
Mark Roberts, MD
[PDF]
The Pompe Registry: Centralized Data Collection to Track the Natural Course of
Pompe Disease
Luciano Merlini, MD; Priya Kishnani, MD; Barry Byrne, MD, PhD;
Wolfgang Müller-Felber, MD; Laura Case, PT, DPT; and
Ans van der Ploeg, MD
[PDF]
Poster Abstracts
[PDF]
Support for this supplement was provided by Genzyme Europe BV, Naarden, The Netherlands.
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