The literature concerning muscle Glycogenoses reflects a world-wide 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.
Preface; Muscle Glycogenosis:: An Overview; Pathophysiological Mechanisms in Type II Glycogenosis; Infantile Form of Type II Glycogenosis:: Clinical Aspects; Juvenile & Adult Forms of Type II Glycogenosis:: Clinical Aspects; Pneumological Aspects; Diagnostic Laboratory Investigations; Neuradiological Features of Skeletal Muscle & Brain; Muscle Pathology; Genetic Diagnosis; ERT in the Infantile Form of Type II Glycogenosis; ERT in the Adult Form of Type II Glycogenosis; Clinical Follow-Up & Efficacy Evaluation in ERT; Multidisciplinary Management of Type II Glycogenosis; New Therapeutic Perspectives; Index.
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