Neonatal Screening for Inborn Errors of Metabolism

Nonfiction, Health & Well Being, Medical, Specialties, Pediatrics, Gynecology & Obstetrics
Cover of the book Neonatal Screening for Inborn Errors of Metabolism by A.V. Augustin, Springer Berlin Heidelberg
View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart
Author: A.V. Augustin ISBN: 9783642674884
Publisher: Springer Berlin Heidelberg Publication: December 6, 2012
Imprint: Springer Language: English
Author: A.V. Augustin
ISBN: 9783642674884
Publisher: Springer Berlin Heidelberg
Publication: December 6, 2012
Imprint: Springer
Language: English

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.

View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart

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.

More books from Springer Berlin Heidelberg

Cover of the book Kombinatorische Optimierung by A.V. Augustin
Cover of the book Voice over IP Networks by A.V. Augustin
Cover of the book NMR — From Spectra to Structures by A.V. Augustin
Cover of the book The Pathophysiology of Pneumoperitoneum by A.V. Augustin
Cover of the book Dictyostelids by A.V. Augustin
Cover of the book Manual of Nonpharmacological Control of Hypertension by A.V. Augustin
Cover of the book Organometallics as Catalysts in the Fine Chemical Industry by A.V. Augustin
Cover of the book Relativistische Quantenmechanik by A.V. Augustin
Cover of the book Temperature Regulation in Humans and Other Mammals by A.V. Augustin
Cover of the book Cartilage Surgery and Future Perspectives by A.V. Augustin
Cover of the book Tectonofractography by A.V. Augustin
Cover of the book Business Relationship Management and Marketing by A.V. Augustin
Cover of the book The Brain Stem in a Lizard, Varanus exanthematicus by A.V. Augustin
Cover of the book Glaucoma Update VI by A.V. Augustin
Cover of the book International Maritime Labour Law by A.V. Augustin
We use our own "cookies" and third party cookies to improve services and to see statistical information. By using this website, you agree to our Privacy Policy