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Duchenne Muscular Dystrophy
Fourth Edition
Emery, Muntoni, Quinlivan
Editore
Oxford University Press
Anno
2015
Pagine
320
ISBN
9780199681488
84,00 €
I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.
  • A new edition of the classic monograph on the topic from a distinguished and expert author team with over 40 years exprience in the field

New to this edition

  • Revised and updated to cover new research and developments and consequences for diagnosis, screening, management, and therapy of DMD

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder.

Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.

Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

Readership: Molecular and clinical geneticists, paediatric neurologists, pathologists, nurses and rehabilitation specialists.

1: Introduction
2: History of the disease
3: Clinical features
4: Confirmation of the diagnosis
5: Differential diagnosis
6: Involvement of tissues other than skeletal muscle
7: Biochemistry of Duchenne muscular dystrophy
8: Genetics
9: Molecular pathology
10: Pathogenesis
11: Prevention
12: Genetic counselling
13: Management
Appendices

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