Subject
Now showing items 1-3 of 3
-
Newborn Screening by Tandem Mass Spectrometry: Gaining Experience
(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 ... -
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 ...