Browsing by Author "Lourenço, Charles Marques"
Now showing items 1-14 of 14
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Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry
(2022) [Journal article]Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations ... -
Biotinidase deficiency : clinical and genetic studies of 38 Brazilian patients
(2014) [Journal article]Background: Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme ... -
Deficiência de biotinidase : avaliação de aspectos clínicos e moleculares em uma amostra de pacientes brasileiros
(2013) [Abstract published in event] -
Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network
(2014) [Journal article]Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted ... -
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
(2021) [Journal article]Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading ... -
Identificação de mutações no gene GNPTAB em pacientes brasileiros com Mucolipidose II e III
(2011) [Abstract published in event] -
Identificação de mutações no gene GNPTAB em pacientes brasileiros com mucolipidose II e III
(2010) [Abstract published in event] -
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype
(2021) [Journal article]Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant ... -
Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment
(2010) [Journal article]Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ... -
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy
(2012) [Journal article]In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential ... -
Pacientes brasileiros com deficiência de biotinidase apresentam variantes na região promotora do gene BTD
(2015) [Abstract published in event] -
Perfil clínico e bioquímico de uma amostra de pacientes brasileiros com homocistinúria clássica
(2013) [Abstract published in event] -
Sanfilippo syndrome : the tale of a challenging diagnosis
(2020) [Journal article]Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. ... -
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI : recomendações de um grupo de especialistas brasileiros
(2010) [Journal article]As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos ...
