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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. ...
Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
(Lippincott Williams, 2012-04)
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...
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 ...
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)
Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
(Sociedade Brasileira de Patologia ClínicaSociedade Brasileira de PatologiaSociedade Brasileira de Citopatologia, 2014)
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)
BPAN manifesting with febrile seizures and language delay:a case report from Brazil
(HCPA/FAMED/UFRGS, 2021)
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 ...