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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, ...
Inborn errors of metabolism: a clinical overview
(Associação Paulista de Medicina - APM, 1999-11-04)
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: ...
De la disrupción en el metabolismo del triptófano a la complejidad clínica de la enfermedad de Hartnup
(Universidad Autónoma del Estado de México, 2016)
Adelantándose al daño: el tamiz neonatal.
(Hospital Infantil de México Federico Gómez, 2003)
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 ...
Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
(Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange, 1997)
The purpose of this pilot-study was to evaluate the applicability of a screening protocol for the detection of inborn errors of metabolism (IEM) in high-risk patients. The protocol was applied in 65 patients referred to ...