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Books > Medicine > Clinical & internal medicine > Paediatric medicine
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Neonatal Screening for Inborn Errors of Metabolism (Paperback, Softcover reprint of the original 1st ed. 1980)
Loot Price: R4,044
Discovery Miles 40 440
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Neonatal Screening for Inborn Errors of Metabolism (Paperback, Softcover reprint of the original 1st ed. 1980)
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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."
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