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Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
(BioMed Central, 2016)
Abstract
Background
Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. ...
Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
(Sociedade Brasileira de Patologia ClínicaSociedade Brasileira de PatologiaSociedade Brasileira de Citopatologia, 2007-06-01)
OBJETIVOS: Estabelecer a freqüência de erros inatos do metabolismo (EIMs) em uma amostra de pacientes com hipótese diagnóstica de EIM proveniente do Hospital das Clínicas da Faculdade de Medicina de Botucatu da Universidade ...
Non-immune Hydrops Fetalis: A Prospective Study of 53 Cases
(Wiley-blackwellHobokenEUA, 2013)
Clinical Profile And Molecular Characterization Of Galactosemia In Brazil: Identification Of Seven Novel Mutations
(Biomed Central LtdLondon, 2016)
Clinical Profile And Molecular Characterization Of Galactosemia In Brazil: Identification Of Seven Novel Mutations
(BIOMED CENTRAL LTDLONDON, 2016)
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
(WILEY-LISS, 2008)
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth ...
Molecular basis of various forms of maple syrup urine disease in chilean patients
(Wiley, 2021)
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a ...
Doença de Gaucher: uma desordem subdiagnosticada
(Sociedade de Pediatria de São Paulo, 2011-03-01)
OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype. CASE DESCRIPTION: Patient at the age of three years and six months with ...
Steatosis of indeterminate cause in a pediatric group: is it a primary mitochondrial hepatopathy?
(Associação Paulista de Medicina (APM), 2011-01-01)
CONTEXTO E OBJETIVO: em crianças, a esteatose hepática pode se relacionar a erros inatos do metabolismo (EIMs) ou à doença hepática gordurosa não-alcoólica (DHGNA). O objetivo deste estudo foi avaliar e caracterizar esteatose ...