Neonatal Screening for Inborn Errors of Metabolism

Editors: Bickel, H., Guthrie, R., Hammersen, G. (Eds.)

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About this book

Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula­ tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro­ gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

Table of contents (38 chapters)

  • Rationale of Neonatal Screening for Inborn Errors of Metabolism

    Bickel, H.

    Pages 1-6

  • Screening for Phenylketonuria

    Veale, A. M. O.

    Pages 7-18

  • Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

    Naylor, E. W.

    Pages 19-28

  • Homocystinuria and Other Methioninemias

    Pullon, D. H. H.

    Pages 29-44

  • Screening for Disorders of Tyrosine Metabolism

    Halvorsen, S.

    Pages 45-57

Buy this book

eBook $99.00
price for USA (gross)
  • ISBN 978-3-642-67488-4
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $129.00
price for USA
  • ISBN 978-3-642-67490-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Neonatal Screening for Inborn Errors of Metabolism
Editors
  • H. Bickel
  • R. Guthrie
  • G. Hammersen
Copyright
1980
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-67488-4
DOI
10.1007/978-3-642-67488-4
Softcover ISBN
978-3-642-67490-7
Edition Number
1
Number of Pages
XVIII, 348
Topics