Search
Now showing items 1-10 of 204
Biopsia en los errores innatos del metabolismoBiopsy in inborn errors of metabolism
(Instituto Nacional de Pediatría, 2010)
Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo
(HCPA/FAMED/UFRGS, 2022)
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 ...
Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
(Associa????o Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange, 1997)
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, ...