Titlebook: Neonatal Screening for Inborn Errors of Metabolism; Horst Bickel,Robert Guthrie (Professor of Pediatri Conference proceedings 1980 Springe

VICT

Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) is usually rapid with development of neurologic manifestations, convulsions, coma, and death. Untreated or improperly treated infants who survive will generally have severe mental and motor retardation.

用肘

Newborn Screening for Inherited Disorders of Galactose Metabolism978). Since then, the technique of screening has been diversified, two new defects of galactose metabolism have been discovered (Gitzelmann 1965, 1972), and a number of transferase variant enzymes have been described.

加強(qiáng)防衛(wèi)

DALLY

老巫婆

Neonatal Screening for Hypothyroidism in Brussels in children in Holland (De Jonge 1977) and Sweden (Aim et al. 1978). Our results are very different. In a population of about 5000 newborns, we have established the diagnosis of hypothyroidism in 12, an incidence of approximately 1:500. This figure is thus six to ten times higher than that reported by the other groups.

大約冬季

fficient 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 d

nostrum

左右連貫

MAZE

Amenable

Significance and Need of Screening for Hyperlipidemia in Childhood. 1960; Keys et al. 1963), which have now clearly established that the increase of certain lipid and lipoprotein fractions of plasma must be considered as a major risk factor predicting morbid events related to atherosclerotic disease.