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The odyssey of complex neurogenetic disorders: From undetermined to positive.
(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 ...
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
(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 ...
A few challenges in mucopolysaccharidosis type I
(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, ...
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)]
(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 ...