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Studies in Inherited Metabolic Disease

Prenatal and Perinatal Diagnosis

Editors: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (Eds.)

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About this book

With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue sampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism. The format consisted of the usual mixture of specific invited overviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene therapy. Similarly, the oral com­ munications included reviews of experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy.

Table of contents (61 chapters)

Table of contents (61 chapters)

Buy this book

eBook $59.99
price for USA in USD
  • ISBN 978-94-009-1069-0
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $79.99
price for USA in USD
  • ISBN 978-94-010-6970-0
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually ready to be dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Studies in Inherited Metabolic Disease
Book Subtitle
Prenatal and Perinatal Diagnosis
Editors
  • G.M. Addison
  • J.M. Connor
  • R. Angus Harkness
  • R.J. Pollitt
Copyright
1989
Publisher
Springer Netherlands
Copyright Holder
SSIEM and Kluwer Academic Publishers
eBook ISBN
978-94-009-1069-0
DOI
10.1007/978-94-009-1069-0
Softcover ISBN
978-94-010-6970-0
Edition Number
1
Number of Pages
408
Topics

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