Centro para el Estudio de Enfermedades Genéticas, Metabólicas y Discapacidades (CEEGMD): Recent submissions

Now showing items 1-20 of 32

    • 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, ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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

    • 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 ...

    • Newborn screening: rationale for a comprehensive, fully integrated public health system 

      McCabe, Linda L.; Bradford L., Therrell Jr.; McCabe, Edward R.B. (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 ...

    • Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel 

      Insinga, Ralph P.; Laessig, Ronald H.; Hoffman, Gary L. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Objective: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organ-ic acidemia disorders in the Wisconsin Newborn Screening Program.

    • Newborn Screening by Tandem Mass Spectrometry: Gaining Experience 

      Sweetman, Lawrence (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2001)
      Major expansion of newborn screening for inherited met-abolic disorders is taking place across the US and around the world as newer analytical technology is applied. Historically, each disorder to be screened required ...

    • Newborn screening as a model for population screening 

      McCabe, Linda L.; McCabe, Edward R.B. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      The incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom ...

    • Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan 

      Shigematsu, Yosuke; Hirano, Satoko; Hata, Ikue; Tanaka, Yukie; Sudo, Masakatsu; Sakura, Nobuo; Tajima, Tsuyoshi; Yamaguchi, Seiji (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, ...

    • 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 ...

    • Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry 

      Chace, Donald H.; Pons, Roser; Chiriboga, Claudia A.; Mcmahon, Donald J.; Tein, Ingrid; Naylor, Edwin W.; De vivo, Darryl c. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)
      Despite a number of published reports, there is limited infor-mation about carnitine metabolism in the newborn. To establish normative data, we analyzed whole-blood carnitine concentra-tions in 24,644 newborns at age 1.85 ...

    • MEDLINE Plus, la Enciclopedia Médica en Español, le ofrece un excelente artículo sobre la Fenilcetonuria. 

      MEDLINE Plus (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, )
      Fenilcetonuria: Es una rara afección en la cual un bebé nace sin la capacidad para descomponer apropiadamente un aminoácido llamado fenilalanina.

    • Listado del US Departement of Agriculture con Cantidad de PHE por gramos de Producto. 

      USDA Nutrient Data Laboratory (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, )
      Listado del US Departement of Agriculture con Cantidad de PHE por gramos de Producto.

    • Mass Spectrometry-based Diagnostics: The Upcoming Revolution in Disease Detection Has Already Arrived 

      Reeves, Rebecca; Bakker, Andries J.; Chace, Donald H.; Emanuel F., Petricoin; Liotta, Lance A. Liotta (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)
      Interference by hemoglobin is clearly labeled in the VITROS ® Troponin I assay’s “Instructions For Use” and Package Insert. The hemoglobin con-centrations used and the differences measured are stated under“Limita-tions ...

    • Listado con Cantidades de PHE por gramos de Producto. 

      Castiglioni, Lois (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, )
      Listado con Cantidades de PHE por gramos de Producto

    • 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

    • Una herramienta para la focalización de políticas sociales intrgradas 

      Pirovano, María Bernarda (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2001)
      Herramientas para la focalizacion de políticas sociales integradas