A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343.
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منابع مشابه
A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants.
338 PRINCIPLE T HE INHIBITION of growth of Bacillus subtilis ATCC 6051 by B-2-thienylalanine in a minimal culture medium is prevented by phenylalanine, phenylpyruvic acid, and phenyllactic acid.l* This finding has permitted the development of a convenient agar diffusion microbial assay for phenylketonuria (PKU), employing small filter paper discs, impregnated with blood or urine, placed upon th...
متن کاملTandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.
Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of newborns with an EM. With a single dried filter paper blood spot (Guthrie R, Susi A. A simple phenylalanine method for detecting PKU in large pop...
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References 1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338–43. 2. Williams C, Weber L, Williamson R, Hjelm M. Guthrie spots for DNA-based carrier testing in cystic fibrosis. Lancet 1988;2:693. 3. Verlingue C, Mercier B, Lecoq I, Audrezet MP, Laroche D, Travert G, et al. Retrospective study of the c...
متن کاملMass Screening of Newborns in Ireland
Phenylketonuria was, until recently, regarded as a very rare disease with an estimated incidence of between 1 in 18,000 and 1 in 40,000 (Centerwall, Berry, and Woolf, 1963). The results of massscreening surveys of newborns in the United States showed that the incidence was approximately 1 in 10,000 (MacCready and Hussey, 1964), while a similar experience in Israel showed an incidence of 1 in 90...
متن کاملThe National Institute of Child Health and Human Development and phenylketonuria.
The National Institute of Child Health and Human Development (NICHD) was established shortly after the Guthrie test for screening newborn infants for phenylketonuria (PKU) was introduced. The NICHD supported the study demonstrating the long-term efficacy of screening and a low-phenylalanine diet in preventing mental retardation. With the identification of the adverse impact on fetal development...
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عنوان ژورنال:
- Pediatrics
دوره 102 1 Pt 2 شماره
صفحات -
تاریخ انتشار 1998