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phenylketonuria test

См. также в других словарях:

  • Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 …   Wikipedia

  • test — 1. To prove; to try a substance; to determine the chemical nature of a substance by means of reagents. 2. A method of examination, as to determine the presence or absence of a definite disease or of some substance in any of the fluids, tissues,… …   Medical dictionary

  • phenylketonuria — Autosomal recessively inherited inborn error of metabolism of phenylalanine characterized by deficiency of 1) phenylalanine hydroxylase [MIM*261600] caused by mutation in the phenylalanine hydroxylase gene ( …   Medical dictionary

  • Phenylketonuria —    (PKU)    In 1934, Norwegian biochemist Ivor Asbjorn Folling (1888–1973) discovered, in research published in Hoppe Seyler’s Zeitschrift für physiologische Chemie, that a cause of mental retardation one of the so called inborn errors of… …   Historical dictionary of Psychiatry

  • phenylketonuria — n. an inherited defect of protein metabolism (see inborn error of metabolism) causing an excess of the amino acid phenylalanine in the blood, which damages the nervous system and leads to severe mental retardation. Screening of newborn infants by …   The new mediacal dictionary

  • phenylketonuria — PKU. An inherited disorder that causes a build up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found… …   English dictionary of cancer terms

  • Guthrie test — Blood test for phenylketonuria (PKU). See phenylketonuria. * * * Guth·rie test gəth rē n a test for phenylketonuria in which the plasma phenylalanine of an affected individual reverses the inhibition of a strain of bacteria of the genus Bacillus… …   Medical dictionary

  • Guthrie test — The Guthrie test, also known as the Guthrie bacterial inhibition assay, is a medical test performed on newborn infants to detect phenylketonuria, an inborn error of amino acid metabolism. The test has been widely used throughout North America and …   Wikipedia

  • Guthrie-Test — Der Guthrie Test (nach Robert Guthrie, 1916–1995) ist ein wichtiger Bestandteil der Screeninguntersuchungen beim Neugeborenen. Er erfolgte bei Termingeburten um den 5. Lebenstag, bei Frühgeburten um den 10. Lebenstag und dient der Früherkennung… …   Deutsch Wikipedia

  • Guthrie test — /ˈgʌθri tɛst/ (say guthree test) noun a blood test in newborn babies to detect phenylketonuria; PKU test …  

  • Guthrie test — a blood test performed on all newborn babies at the end of the first week of life. The blood is obtained by pricking the heel of the baby. The test can detect several inborn errors of metabolism (including phenylketonuria) and hypothyroidism; it… …   The new mediacal dictionary

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