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                             39 results found
no title author magazine year volume issue page(s) type
1 Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease Dobbelaere, D.
 2011
 33 6S p. S30-
1 p.
 article
2 Adult-Onset Pompe Disease Presenting with Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers van den Berg, L.
 2011
 33 6S p. S14-
1 p.
 article
3 Association of Adult-Onset Glycogenosis Type II and a Mutation in the LMNA Gene in Two Patients: Different Clinical and Histological Phenotypes Chapon, Françoise
 2011
 33 6S p. S36-
1 p.
 article
4 Benefit of Recombinant Human Acid Alpha Glucosidase Treatment (Myozyme) in Late Onset Pompe Disease: About Five Cases Treated for 3 Years Zagnoli, F.
 2011
 33 6S p. S23-
1 p.
 article
5 Clinical Presentation of a Patient with a Severe form of Pompe Disease Sinchuk, N.I.
 2011
 33 6S p. S13-
1 p.
 article
6 Contents 2011
 33 6S p. v-vii
nvt p.
 article
7 Current French Pompe Prevalence Study (French PoPS) Sacconi, S.
 2011
 33 6S p. S21-
1 p.
 article
8 Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy Corbett, Alastair
 2011
 33 6S p. S24-
1 p.
 article
9 Does Impaired Cellular and Pulmonary Respiration Lead to Decreased Activity Tolerance in a Patient with Late-Onset Pompe Disease? — Application of the Ventilatory Threshold Khan, Aneal
 2011
 33 6S p. S16-
1 p.
 article
10 Dried Blood Spot Testing—The Newcastle Experience Over a Twelve Month Period Willis, T.
 2011
 33 6S p. S10-
1 p.
 article
11 Dysphagia and Speech Disorders are Common in Long Term Survivors with Classic Infantile Pompe Disease van Gelder, C.M.
 2011
 33 6S p. S15-
1 p.
 article
12 Effect of Aerobic and Resistance Exercise Training on Late-Onset Pompe Disease Patients Receiving Enzyme Replacement Therapy Terzis, Gerasimos
 2011
 33 6S p. S40-
1 p.
 article
13 Enzyme Replacement Therapy in Juvenile and Adult Late-Onset Glycogenosis Type II Semplicini, Claudio
 2011
 33 6S p. S7-
1 p.
 article
14 Experience with Adult Pompe Disease Treated at Home with Myozyme Parajuá-Pozo, J.L.
 2011
 33 6S p. S20-
1 p.
 article
15 Foreword Waldek, Stephen
 2011
 33 6S p. S1-S2
2 p.
 article
16 Genotype-Phenotype Correlations in Pompe Disease Herzog, A.
 2011
 33 6S p. S39-
1 p.
 article
17 High Density of Skeletal Muscle CT Imaging Indicates Excess Calcium Accumulation in Autophagic Vacuoles in Childhood-Onset Pompe Disease Ishigaki, Keiko
 2011
 33 6S p. S12-
1 p.
 article
18 Inhibition of Glycogen Biosynthesis via mTORC1 Suppression as an Adjunct Therapy for Pompe Disease Ashe, K.
 2011
 33 6S p. S31-
1 p.
 article
19 Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy Sukhorukov, Vladimir S.
 2011
 33 6S p. S33-
1 p.
 article
20 Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response Pomponio, Robert J.
 2011
 33 6S p. S5-
1 p.
 article
21 Muscle Biopsy as a Diagnostic Tool in Pompe Disease Schoser, Benedikt
 2011
 33 6S p. S6-
1 p.
 article
22 Muscle Regeneration and Repair in the Pompe Mouse D'Angona, Alida
 2011
 33 6S p. S32-
1 p.
 article
23 Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy Garcia, Paula
 2011
 33 6S p. S37-
1 p.
 article
24 Outcome Measures in Juvenile/Adult GSDII Cases Angelini, Corrado
 2011
 33 6S p. S3-
1 p.
 article
25 Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World Angelini, Corrado
 2011
 33 6S p. S35-
1 p.
 article
26 Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry Roberts, Mark E.
 2011
 33 6S p. S19-
1 p.
 article
27 Pregnancy in a Case of Pompe Disease Treated with Recombinant Human Acid Alpha Glucosidase (Myozyme) Zagnoli, F.
 2011
 33 6S p. S22-
1 p.
 article
28 Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy Rodrigues, Fidjy
 2011
 33 6S p. S38-
1 p.
 article
29 RegistryNXT!: Enhanced Data Collection and Reporting for the Pompe Registry Jones, C.
 2011
 33 6S p. S26-
1 p.
 article
30 Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®) Laforêt, P.
 2011
 33 6S p. S34-
1 p.
 article
31 Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease Nascimbeni, Anna Chiara
 2011
 33 6S p. S18-
1 p.
 article
32 Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease Güngör, Deniz
 2011
 33 6S p. S11-
1 p.
 article
33 The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry Kishnani, Priya
 2011
 33 6S p. S27-S28
2 p.
 article
34 The Pompe Registry: Baseline Data From the First Five Years Kishnani, Priya
 2011
 33 6S p. S29-
1 p.
 article
35 The Search for a Reliable Biomarker and High Risk Testing in Children and Adults Mongini, Tiziana
 2011
 33 6S p. S4-
1 p.
 article
36 Transcriptional Response to GAA Deficiency in Mice and Humans Palermo, A.
 2011
 33 6S p. S25-
1 p.
 article
37 Treatment Guidelines for Pompe Disease: A South European Perspective Toscano, Antonio
 2011
 33 6S p. S8-
1 p.
 article
38 Treatment Options for Patients with Advanced Pompe Disease Lachmann, Robin
 2011
 33 6S p. S9-
1 p.
 article
39 Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza Mandel, Hanna
 2011
 33 6S p. S17-
1 p.
 article
                             39 results found
 
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