Browsing Centro para el Estudio de Enfermedades Genéticas, Metabólicas y Discapacidades (CEEGMD) by Title

Now showing items 25-32 of 32

    • 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 ...

    • PKU Primer. For comunity health care providers treating adolescents and adults with PKU 

      HRSA; The Children's Hospital of Boston. (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

    • Las Políticas Sociales en el fin de siglo. Lo público y lo privado - Social policies at the end of the century. Public and private domains 

      Pirovano, María Bernarda (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 1999)
      Las Políticas Sociales en el fin de siglo. Lo público y lo privado - Social policies at the end of the century. Public and private domains

    • Rare diseases and the assessment of intervention: What sorts of clinical trials can we use? 

      Wilcken, B. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2001)
      There is increasing emphasis on the importance of practising evidence-based medicine. Randomized controlled trials are the standard way to assess the bene¢ts of an intervention, and observational studies are not ...

    • Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review 

      Filiano, James J.; Bellimer, Sherry Gray; Kunz, Pamela L. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2001)
      United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening pro-grams. The debate is hampered because published finan-cial data ...

    • Tandem mass spectrometry in newborn screening 

      Charrow, Joel; Goodman, Stephen I.; McCabe, Edward R.G.; Rinaldo, Piero (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2000)
      Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine esters in blood and urine of children suspected of having inborn errors of metab-olism. Indeed, acylcarnitine analysis ...

    • The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry 

      Jones, Patricia M.; Bennett, Michael J. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Technological advances are revolutionizing the way in which we can diagnose and screen whole popula-tions for inborn errors of metabolism. These advances are also necessitating a reevaluation of the spectrum of metabolic ...

    • Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns 

      Chace, Donald H.; Kalas, Theodore A.; Naylor, Edwin W. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)
      Background:Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, spe-cific, reliable, and comprehensive than traditional as-says, ...