Advances in Diagnosis and Management of Glycogenosis II

Massimiliano Filosto, Antonio Toscano and Alessandro Padovani (Editors)
Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy

Series: Metabolic Diseases – Laboratory and Clinical Research
BISAC: MED027000


Volume 10

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Volume 2

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Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick


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The literature concerning muscle Glycogenoses reflects a worldwide interest which has been greatly intensified, mainly over the last ten years. To a large extent, this renewed interest is due to recent advances in diagnosing and treating the Lysosomal disease named Glycogenosis II or Pompe disease (GSD II). The new therapeutic approaches must induce us to make a great effort in order to better diagnose, treat and follow correctly the patients with Pompe disease. This book is a comprehensive text which covers all of the aspects regarding this disease, from pathogenic to clinical and therapeutic features. (Imprint: Nova Biomedical )

Preface pp. i-vii

Chapter 1: Muscle Glycogenosis: An Overview
(M. Filosto, M. Scarpelli, P. Tonin, M.S. Cotelli, A. Todeschini, G. Tomelleri, A. Padovani, Brescia, Italy)pp. 1-16

Chapter 2: Pathophysiological Mechanisms in Type II Glycogenosis
(A. Toscano, O. Musumeci, Messina, Italy)pp. 17-22

Chapter 3: Infantile Form of Type II Glycogenosis: Clinical Aspects
(R. Parin, F. Furlan, P. Russo, F. Santus, V. Fesslovà, Monza, Italy)pp. 23-38

Chapter 4: Juvenile and Adult Forms of Type II Glycogenosis: Clinical Aspects
(C. Lamperti, V. Crugnola, G.P. Comi, M. Moggio, Milano, Italy)pp. 39-52

Chapter 5: Pneumological Aspects
(M. Vitacca, A. Vianello, Brescia, Padova, Italy)pp. 53-68

Chapter 6: Diagnostic Laboratory Investigations
(S. Gasperini, A. Donati, Firenze, Italy)pp. 69-76

Chapter 7: Neuradiological Features of Skeletal Muscle and Brain
(S. Ravaglia, Pavia, Italy)pp. 77-86

Chapter 8: Muscle Pathology
(L. Morandi, Milano, Italy)pp. 87-90

Chapter 9: Genetic Diagnosis
(C. Danesino, P. De Filippi, Pavia, Italy)pp. 91-110

Chapter 10: ERT in the Infantile Form of Type II Glycogenosis
(A. Sechi, B. Bembi, Udine, Italy)pp. 111-120

Chapter 11: ERT in the Adult Form of Type II Glycogenosis
(T. Mongini, L. Vercelli, Torino, Italy)pp. 121-136

Chapter 12: Clinical Follow-Up and Efficacy Evaluation in ERT
(C. Angelini, C. Semplicini, E. Pegoraro, Padova, Italy) pp. 137-144

Chapter 13: Multidisciplinary Management of Type II Glycogenosis
(L. Volpi, G. Ricci, M. Mancuso, G. Siciliano, Pisa, Italy)pp. 145-162

Chapter 14: New Therapeutic Perspectives
(G. Parenti, M. Cardone, G. Andria, Napoli, Italy)pp. 163-182

Index pp. 183-195

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