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BOOK SUMMARY :

Pdf | objectives to systematically review the literature on inborn errors of metabolism neonatal screening technology and screening programmes in order to analyse the costs and benefits of clinical effectiveness and cost effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry a systematic review inborn errors of metabolism are a rare group of genetic disorders that can have serious clinical consequences for an affected neonate or young infantin his account of the plans for extended neonatal screening in the usa1 harvey black reports norman fosts assertion that 95 of people with an abnormal screening test for phenylketonuria had no disease that the diet was lethal and caused brain damage and killed we dont know how many kids we are concerned that this statement which was not further clarified by rationale of neonatal screening for inborn errors of metabolism screening for hereditary metabolic disorders screening for phenylketonuria newborn screening for maple syrup urine disease branched chain ketoaciduria homocystinuria and other methioninemias screening for disorders of tyrosine metabolism neonatal screening for 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

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