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Biopsia en los errores innatos del metabolismoBiopsy in inborn errors of metabolism
(Instituto Nacional de Pediatría, 2010)
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 ...
Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
(2007-05-01)
Objective: To establish the frequency of inborn errors of metabolism (IEM) in a cohort of patients with a diagnostic hypothesis of IEM, deriving from the Hospital das Clínicas da Faculdade de Medicina de Botucatu of UNESP ...
De la disrupción en el metabolismo del triptófano a la complejidad clínica de la enfermedad de Hartnup
(Universidad Autónoma del Estado de México, 2016)
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)
ABSTRACT. Objective. The aims of this study were
to determine the impact of expanded newborn screening
using tandem mass spectrometry (MS/MS) on the overall
detection rate of inborn errors of metabolism in Germany
and ...
Animal models of intellectual disability: towards a translational approach
(Faculdade de Medicina / USP, 2011-01-01)
Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and ...
Lactate dehydrogenase activity is inhibited by methylmalonate in vitro
(Springer/plenum PublishersNew YorkEUA, 2006)
Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
(Sociedad Médica de Santiago, 2007)