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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 ...
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 ...
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 ...