Universidad de Belgrano

Centro para el Estudio de Enfermedades Genéticas, Metabólicas y Discapacidades

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Documentos y publicaciones

Importancia del conocimiento de la enfermedad Fenilcetonuria y su tratamiento, en los pacientes y sus familias.

Abordaje nutricional del paciente fenilcetonúrico o con hiperfenilalaninemia desde el período de lactancia hasta la alimentación completa.

Investigación sobre el rol del nutricionista como comunicador en la prevención secundaria de enfermedades genéticas metabólicas de detección obligatoria en la Argentina. (Prueba Piloto).

A Babysitters' Guide to PKU.

A Teachers Guide to PKU.

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

Application of tandemmass spectrometry to biochemical genetics and newborn screening.

Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism.

Congreso de neurología. Cordoba.

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

Guía PKU? - España (guía que nos introduce en el complejo campo de los errores congénitos del metabolismo).

Integracion Escolar.

Integration of New Genetic Diseases into Statewide Newborn Screening.

Jornadas Salamanca 2001.

Las Políticas Sociales.

Listado con Cantidades de PHE por gramos de Producto.

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.

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

New Parents' Guide to PKU.

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

Newborn screening as a model for population screening.

Newborn Screening by Tandem Mass Spectrometry: Gaining Experience.

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

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

Phenylketonuria (PKU): Screening and Management (Current Bibliographies in Medicine 2000-4 January 1980 through July 2000)

PKU Bruchure - The Children's Hospital of Boston.

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

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

Tandem mass spectrometry in newborn screening.

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

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