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 Thermophotovoltaics by A.V. Augustin
Cover of the book Fuzzy XML Data Management by A.V. Augustin
Cover of the book Euro-Par 2015: Parallel Processing by A.V. Augustin
Cover of the book Managing Software Engineering Knowledge by A.V. Augustin
Cover of the book Legal Issues for Implementing the Clean Development Mechanism in China by A.V. Augustin
Cover of the book Air Quality Control by A.V. Augustin
Cover of the book Southern Hemisphere Paleo- and Neoclimates by A.V. Augustin
Cover of the book Rubidomycin by A.V. Augustin
Cover of the book Computational Intelligence in Sensor Networks by A.V. Augustin
Cover of the book Neue europäische Finanzarchitektur by A.V. Augustin
Cover of the book Applied Cross-Coupling Reactions by A.V. Augustin
Cover of the book Topics in Dental Biochemistry by A.V. Augustin
Cover of the book Transactions on Large-Scale Data- and Knowledge-Centered Systems XL by A.V. Augustin
Cover of the book EU Bilateral Trade Agreements and Intellectual Property: For Better or Worse? by A.V. Augustin
Cover of the book Mechatronics by Bond Graphs 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