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Now showing items 1-9 of 9
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A Babysitters' Guide to PKU.
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas -, 1987)You are babysitting a child and there is a special restriction. The child has PKU and you have never before heard of that. PKU, stands for "phenylketonuria" This child's body cannot use protein foods which contain ... -
A Teacher's Guide to PKU
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 1985)Phenylketonuria (or PKU) is an inherited disorder of protein metabolism. Children with PKU do not have a functioning enzyme to metabolize or break down amino acid call phenylalanine (PHE for short), which is found in ... -
Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and ... -
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)ABSTRACT. Objective. The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Germany and ... -
Guía PKU? - España (guía que nos introduce en el complejo campo de los errores congénitos del metabolismo).
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 1997)PKU?nace con la idea de ser una pequeña guía-manual que nos introduzca en este complejo campo de los errores congénitos del metabolismo. Uno de los más frecuentes y mejor conocidos y que llega a afectar a 1:10.000 recién ... -
New Parents' Guide to PKU.
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, )The purpose of this booklet is to help to familiarize you, as new parents of a child with phenylketonuria (called PKU), with PKU and its treatment. It will also help to orient you to the PKU clinic and the people there ... -
Newborn screening: rationale for a comprehensive, fully integrated public health system
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)Newborn screening has existed for approximately four decades [1]. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part ... -
Phenylketonuria (PKU): Screening and Management
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2000)INTRODUCTION Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually ... -
PKU Primer. For comunity health care providers treating adolescents and adults with PKU
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, )PKU Primer. For comunity health care providers treating adolescents and adults with PKU