nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease
|
Dobbelaere, D. |
|
2011 |
|
6S |
p. S30- 1 p. |
artikel |
2 |
Adult-Onset Pompe Disease Presenting with Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers
|
van den Berg, L. |
|
2011 |
|
6S |
p. S14- 1 p. |
artikel |
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 |
|
6S |
p. S36- 1 p. |
artikel |
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 |
|
6S |
p. S23- 1 p. |
artikel |
5 |
Clinical Presentation of a Patient with a Severe form of Pompe Disease
|
Sinchuk, N.I. |
|
2011 |
|
6S |
p. S13- 1 p. |
artikel |
6 |
Contents
|
|
|
2011 |
|
6S |
p. v-vii nvt p. |
artikel |
7 |
Current French Pompe Prevalence Study (French PoPS)
|
Sacconi, S. |
|
2011 |
|
6S |
p. S21- 1 p. |
artikel |
8 |
Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy
|
Corbett, Alastair |
|
2011 |
|
6S |
p. S24- 1 p. |
artikel |
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 |
|
6S |
p. S16- 1 p. |
artikel |
10 |
Dried Blood Spot Testing—The Newcastle Experience Over a Twelve Month Period
|
Willis, T. |
|
2011 |
|
6S |
p. S10- 1 p. |
artikel |
11 |
Dysphagia and Speech Disorders are Common in Long Term Survivors with Classic Infantile Pompe Disease
|
van Gelder, C.M. |
|
2011 |
|
6S |
p. S15- 1 p. |
artikel |
12 |
Effect of Aerobic and Resistance Exercise Training on Late-Onset Pompe Disease Patients Receiving Enzyme Replacement Therapy
|
Terzis, Gerasimos |
|
2011 |
|
6S |
p. S40- 1 p. |
artikel |
13 |
Enzyme Replacement Therapy in Juvenile and Adult Late-Onset Glycogenosis Type II
|
Semplicini, Claudio |
|
2011 |
|
6S |
p. S7- 1 p. |
artikel |
14 |
Experience with Adult Pompe Disease Treated at Home with Myozyme
|
Parajuá-Pozo, J.L. |
|
2011 |
|
6S |
p. S20- 1 p. |
artikel |
15 |
Foreword
|
Waldek, Stephen |
|
2011 |
|
6S |
p. S1-S2 2 p. |
artikel |
16 |
Genotype-Phenotype Correlations in Pompe Disease
|
Herzog, A. |
|
2011 |
|
6S |
p. S39- 1 p. |
artikel |
17 |
High Density of Skeletal Muscle CT Imaging Indicates Excess Calcium Accumulation in Autophagic Vacuoles in Childhood-Onset Pompe Disease
|
Ishigaki, Keiko |
|
2011 |
|
6S |
p. S12- 1 p. |
artikel |
18 |
Inhibition of Glycogen Biosynthesis via mTORC1 Suppression as an Adjunct Therapy for Pompe Disease
|
Ashe, K. |
|
2011 |
|
6S |
p. S31- 1 p. |
artikel |
19 |
Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy
|
Sukhorukov, Vladimir S. |
|
2011 |
|
6S |
p. S33- 1 p. |
artikel |
20 |
Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response
|
Pomponio, Robert J. |
|
2011 |
|
6S |
p. S5- 1 p. |
artikel |
21 |
Muscle Biopsy as a Diagnostic Tool in Pompe Disease
|
Schoser, Benedikt |
|
2011 |
|
6S |
p. S6- 1 p. |
artikel |
22 |
Muscle Regeneration and Repair in the Pompe Mouse
|
D'Angona, Alida |
|
2011 |
|
6S |
p. S32- 1 p. |
artikel |
23 |
Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy
|
Garcia, Paula |
|
2011 |
|
6S |
p. S37- 1 p. |
artikel |
24 |
Outcome Measures in Juvenile/Adult GSDII Cases
|
Angelini, Corrado |
|
2011 |
|
6S |
p. S3- 1 p. |
artikel |
25 |
Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World
|
Angelini, Corrado |
|
2011 |
|
6S |
p. S35- 1 p. |
artikel |
26 |
Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry
|
Roberts, Mark E. |
|
2011 |
|
6S |
p. S19- 1 p. |
artikel |
27 |
Pregnancy in a Case of Pompe Disease Treated with Recombinant Human Acid Alpha Glucosidase (Myozyme)
|
Zagnoli, F. |
|
2011 |
|
6S |
p. S22- 1 p. |
artikel |
28 |
Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy
|
Rodrigues, Fidjy |
|
2011 |
|
6S |
p. S38- 1 p. |
artikel |
29 |
RegistryNXT!: Enhanced Data Collection and Reporting for the Pompe Registry
|
Jones, C. |
|
2011 |
|
6S |
p. S26- 1 p. |
artikel |
30 |
Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)
|
Laforêt, P. |
|
2011 |
|
6S |
p. S34- 1 p. |
artikel |
31 |
Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease
|
Nascimbeni, Anna Chiara |
|
2011 |
|
6S |
p. S18- 1 p. |
artikel |
32 |
Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease
|
Güngör, Deniz |
|
2011 |
|
6S |
p. S11- 1 p. |
artikel |
33 |
The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry
|
Kishnani, Priya |
|
2011 |
|
6S |
p. S27-S28 2 p. |
artikel |
34 |
The Pompe Registry: Baseline Data From the First Five Years
|
Kishnani, Priya |
|
2011 |
|
6S |
p. S29- 1 p. |
artikel |
35 |
The Search for a Reliable Biomarker and High Risk Testing in Children and Adults
|
Mongini, Tiziana |
|
2011 |
|
6S |
p. S4- 1 p. |
artikel |
36 |
Transcriptional Response to GAA Deficiency in Mice and Humans
|
Palermo, A. |
|
2011 |
|
6S |
p. S25- 1 p. |
artikel |
37 |
Treatment Guidelines for Pompe Disease: A South European Perspective
|
Toscano, Antonio |
|
2011 |
|
6S |
p. S8- 1 p. |
artikel |
38 |
Treatment Options for Patients with Advanced Pompe Disease
|
Lachmann, Robin |
|
2011 |
|
6S |
p. S9- 1 p. |
artikel |
39 |
Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza
|
Mandel, Hanna |
|
2011 |
|
6S |
p. S17- 1 p. |
artikel |