Browsing Centro para el Estudio de Enfermedades Genéticas, Metabólicas y Discapacidades (CEEGMD) by Title
Now showing items 25-32 of 32
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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 -
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
(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?
(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
(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
(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
(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
(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, ...