Browsing Facultad de Ciencias Biomédicas -FCB- by Author "Amartino, Hernán."
Now showing items 1-4 of 4
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A few challenges in mucopolysaccharidosis type I
Amartino, Hernán.; Et al. (2021-06-01)RESUMEN Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, ... -
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
Salinas, Valeria.; Maturo, Josefina.; Amartino, Hernán.; Et al. (Elsevier, 2021-12)Abstract Developmental and epileptic encephalopathies (DEE) are complex pediatric epilepsies, in which heterogeneous pathogenic factors play an important role. Next-generation-sequencing based tools have shown excellent ... -
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)]
Amartino, Hernán.; Bustamante, Lucrecia.; Garavaglia, Luciano.; Et al. (sociedad argentina de pediatria, 2021-02)Abstract in English, Spanish Enzyme replacement therapy with idursulfase decreases morbidity and improves quality of life of patients with mucopolysaccharidosis ii. Immediate hypersensitivity reactions to this drug have ... -
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Salinas, Valeria.; Pérez-Maturo, Josefina.; Amartino, Hernán.; Et al. (Wiley, 2020-12)Abstract The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease ...