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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 ...
Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients
(Sociedade Brasileira de Genética, 2012-01-01)
Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, ...
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 ...