Volume 33; Issue 6-supp-S

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Clinical Therapeutics
Volume 33; Issue 6-supp-S

Clinical Therapeutics

Volume 33; Issue 6-supp-S

1

Foreword

Stephen Waldek, Mark Roberts

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

2

Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease

Deniz Güngör, Juna M. de Vries, Wim C.J. Hop, Arnold J.J. Reuser, Pieter A. van Doorn, Ans T. van der Ploeg, Marloes L.C. Hagemans

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

3

Dried Blood Spot Testing—The Newcastle Experience Over a Twelve Month Period

T. Willis, H. Lochmuller, K. Bushby, V. Straub

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

4

High Density of Skeletal Muscle CT Imaging Indicates Excess Calcium Accumulation in Autophagic Vacuoles in Childhood-Onset Pompe Disease

Keiko Ishigaki, Satomi Mitsuhashi, Ryohei Kuwatsuru, Terumi Murakami, Keiko Shishikura, Haruko Suzuki, Yoshito Hirayama, Ikuya Nonaka, Makiko Osawa

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

5

Clinical Presentation of a Patient with a Severe form of Pompe Disease

N.I. Sinchuk, N.V. Olkhovych, N.A. Pichkur, T.P. Ivanova, N.G. Gorovenko

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

6

Adult-Onset Pompe Disease Presenting with Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers

L. van den Berg, J. de Vries, A. Reuser, A. van der Ploeg, P. van Doorn

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

7

Dysphagia and Speech Disorders are Common in Long Term Survivors with Classic Infantile Pompe Disease

C.M. van Gelder, C.I. van Capelle, H.H.W. de Gier, J.M.P. van den Hout, A.T. van der Ploeg

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

8

Does Impaired Cellular and Pulmonary Respiration Lead to Decreased Activity Tolerance in a Patient with Late-Onset Pompe Disease? — Application of the Ventilatory Threshold

Aneal Khan, Barbara Ramage, Ion Robu

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

9

Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza

Hanna Mandel, Deeksha Bali, Priya S. Kishnani, Gad Bar-Joseph, Avraham Lorber, Asaad Khoury, Dalia Natan, Dan J. Eldad, Marsha Zeigler, Dan Bercovich, Horachio Plotkin, Eli Herskovitz

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

10

Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease

Anna Chiara Nascimbeni, Marina Fanin, Eva Masiero, Claudio Semplicini, Elisabetta Tasca, Marco Sandri, Corrado Angelini

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

11

Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry

Mark E. Roberts, Simon Jones, Andrew Millar, Suyash Prasad

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 83 KB

english, 2011

12

Experience with Adult Pompe Disease Treated at Home with Myozyme

J.L. Parajuá-Pozo, M. García-Lezcano, M. Vicedo, M.J. Herrero-Antón

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 64 KB

english, 2011

13

Current French Pompe Prevalence Study (French PoPS)

S. Sacconi, M. Piraud, A. Echaniz-Laguna, C. Tranchant, C. Boutte, A. Nadaj, I. Penisson-Besnier, F. Bouhour, H. Gervais, P. Petiot, V. Manel, J. Gallard, E. Salort-Campana, G. Solé, M. Pages, B. Eche

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

14

Pregnancy in a Case of Pompe Disease Treated with Recombinant Human Acid Alpha Glucosidase (Myozyme)

F. Zagnoli, A. Leblanc, C. Blanchard, A. Philippe, M. Lastennet

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

15

Benefit of Recombinant Human Acid Alpha Glucosidase Treatment (Myozyme) in Late Onset Pompe Disease: About Five Cases Treated for 3 Years

F. Zagnoli, A. Leblanc, C. Blanchard, A. Philippe, M. Lastennet

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

16

Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy

Alastair Corbett, Susan Brammah, Min-Xia Wang, Roger Pamphlett

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

17

Transcriptional Response to GAA Deficiency in Mice and Humans

A. Palermo, R. Palmer, K. So, M. Zhang, B. Richards, S. Shah, P. Finn, S. Oba-Shinjo, M. Pescatori, S. Marie, A. McVie-Wylie, R. Mattaliano, R. Pomponio, S. Madden, K. Klinger

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 77 KB

english, 2011

18

RegistryNXT!: Enhanced Data Collection and Reporting for the Pompe Registry

C. Jones, J.A. Cole, J. Cutler, K. Faherty, S. Prasad, C. Koepper, E. James, A. Siegel, H. Virkar, J. Yee

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

19

The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry

Priya Kishnani, Barry Byrne, Laura Case, Edward Cupler, Angela Genge, Ans van der Ploeg, Suyash Prasad

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

20

The Pompe Registry: Baseline Data From the First Five Years

Priya Kishnani, Barry Byrne, Laura Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, Ans van der Ploeg

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 78 KB

english, 2011

21

Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease

D. Dobbelaere, P. Jissendi, J.M. Cuisset, K. Mention, G. Soto Ares

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 69 KB

english, 2011

22

Inhibition of Glycogen Biosynthesis via mTORC1 Suppression as an Adjunct Therapy for Pompe Disease

K. Ashe, K.M. Taylor, Q. Chu, E. Meyers, A. Ellis, V. Jingozyan, K. Klinger, P.F. Finn, C.G.F. Cooper, W. Chuang, J. Marshall, A.J. McVie-Wylie, J.M. McPherson, R.J. Mattaliano, S.H. Cheng, R.K. Scheu

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

23

Muscle Regeneration and Repair in the Pompe Mouse

Alida D'Angona, Emily LaCasse, Patrick Finn, Lucy Phillips, Robin Ziegler, Doug Matthews, Laura Andrews, Alison McVie-Wylie

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

24

Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy

Vladimir S. Sukhorukov, Dmitry A. Kharlamov, Marina Yu. Dorofeeva

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

25

Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)

P. Laforêt, C. Payan, K. Laloui, J.-Y. Hogrel, C. Wary, R. Carlier, N. Pellegrini, A.-L. Bedat-Millet, I. Durieu, A. Furby, I. Penisson-Besnier, J. Praline, D. Orlikowski, N. Guffon-Fouilhoux, A. Levy

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 86 KB

english, 2011

26

Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World

Corrado Angelini, Suyash Prasad

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 81 KB

english, 2011

27

Association of Adult-Onset Glycogenosis Type II and a Mutation in the LMNA Gene in Two Patients: Different Clinical and Histological Phenotypes

Françoise Chapon, Pascale Richard, Y. Reznik, Stéphane Allouche, François Leroy, Gisèle Bonne, Marie-Odile Rolland

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 80 KB

english, 2011

28

Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy

Paula Garcia, Rui Castelo, Mafalda Barbosa, Henriqueta Araujo, Vera Ribeiro, Fátima Martins, Luisa Diogo

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

29

Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy

Fidjy Rodrigues, Catarina Vaz, Fátima Martins, Luísa Diogo, Paula Garcia

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

30

Genotype-Phenotype Correlations in Pompe Disease

A. Herzog, R. Hartung, E. Mengel, P. Hermanns, H. Runz, S. Gökce, J. Pohlenz, M. Beck

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

31

Effect of Aerobic and Resistance Exercise Training on Late-Onset Pompe Disease Patients Receiving Enzyme Replacement Therapy

Gerasimos Terzis, Georgios K. Papadimas, Filippos Dimopoulos, Costas Papadopoulos, Konstantinos Spengos, Ioannis Fatouros, Stavros Kavouras, Panagiota Manta

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

32

Outcome Measures in Juvenile/Adult GSDII Cases

Corrado Angelini

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

33

The Search for a Reliable Biomarker and High Risk Testing in Children and Adults

Tiziana Mongini, Liliana Vercelli

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 74 KB

english, 2011

34

Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response

Robert J. Pomponio

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

35

Muscle Biopsy as a Diagnostic Tool in Pompe Disease

Benedikt Schoser

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

36

Enzyme Replacement Therapy in Juvenile and Adult Late-Onset Glycogenosis Type II

Claudio Semplicini

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

37

Treatment Guidelines for Pompe Disease: A South European Perspective

Antonio Toscano, Olimpia Musumeci

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

38

Treatment Options for Patients with Advanced Pompe Disease

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

39

Contents

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 39 KB

english, 2011

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