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Now showing items 1-5 of 5

    • A Teacher's Guide to PKU 

      Kaufman, Mimi; Nardella, Maria (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 ...

    • Análisis de datos de un grupo de pacientes para: establecer valores de referencia para tsh y t4, y comparación de dos métodos para PKU. 

      Manzanel, H.N.; Pérez, J. L.; Castro, J.A.; Duven, A.L.; Palacios, C.N. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2001)
      La pesquisa de enfermedades congénitas que se trasmiten en forma autosomica recesiva, entre ellas el hipotiroidismo congénito primario y la fenilcetonuria, producen en los recién nacidos, si no son detectadas a tiempo ...

    • Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications 

      Schulze, Andreas; Lindner, Martin; Kohlmuller, Dirk; Olgemolle, Katharina; Mayatepek, Ertan; Hoffman, Georg F. (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 ...

    • New Parents' Guide to PKU. 

      Trahms, Cristine M.; Luce, Pamela; Strom, Teresa; Owen, Greg (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 ...

    • Phenylketonuria (PKU): Screening and Management 

      Patrias, Karen; de la Cruz, Felix F. (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 ...