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Mostrando ítems 11-20 de 44
Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)
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 ...
Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)
Molecular basis of clinical metabolomics
(Academic Press, 2020)
Metabolomic assays, combined with other omic technologies, such as transcriptomics and proteomics, have gained relevant importance in clinical research. Significant progress has been made in the identification of biomarkers ...
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, ...
Male hypogonadism
(McGraw-Hill, 2017)
Normal testicular function is necessary for external genital development and function, diverse psychosexual dimorphic features, normal muscle, and bone structure. Depending on age and developmental stage, underlying defects ...
"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 ...