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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 ...
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
(Wiley Blackwell Publishing, Inc, 2019-05)
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...
Parenting styles and coping strategies in PKU early detected children
(Latin American Society Inborn Errors and Neonatal Screening; Instituto Genética para Todos, 2021-03)
Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention ...
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
(Latin American Society Inborn Errors and Neonatal Screening, 2021-08)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien
(Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos, 2021-07)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
"Atypical" Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
(Latin American Society Inborn Errors and Neonatal Screening; Instituto Genética para Todos, 2021-06)
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are ...
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant
(Academic Press Inc Elsevier Science, 2004-04)
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel ...
Paper-based enzymatic platform coupled to screen printed graphene-modified electrode for the fast neonatal screening of phenylketonuria
(Elsevier Science, 2018-11-11)
Introduction: The PKU is an inborn error of amino acid metabolism, in which phenylalanine (Phe) accumulated in the blood causing alterations at the central nervous system. We report a novel paper-based enzymatic platform ...
Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients
(Scielo, 2021-03)
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) ...
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: Neuronal ceroid lipofuscinoses as a model disorder
(Elsevier Science, 2015-10)
This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's Training ...