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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 ...
New recommendations for the care of patients with mucopolysaccharidosis type I
(Sociedad argentina de pediatría, 2021-04)
Abstract in English, Spanish
Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological ...