Browsing by Author "Amartino, Hernán."
Now showing items 1-10 of 10
-
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, ... -
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years
Amartino, Hernán.; Kauffman, Marcelo.; Cohen, Cohen.; Et al. (Wiley, 2020-01)Abstract Introduction and objectives: Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent ... -
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 ... -
Enfermedad de Fabry y síndrome de piernas inquietas: certificación
Dominguez, Raul.; Amartino, Hernán. (Elsevier, 2017-01-01)La observación de un síntoma, signo o síndrome aún no descrito en una entidad, e indagando en los buscadores bibliográficos más conocidos, originan pensamientos de autocrítica, que con frecuencia determinan que esa experiencia ... -
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler, Florian.; Duncan, Christine.; Musolino, Patricia.; Orchard, Paul.; Oliveira, Satiro.; Thrasher, Adrian.; Amartino, Hernán.; et al. (Massachusetts Medical Society, 2017-10-26)BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, ... -
[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 ... -
New recommendations for the care of patients with mucopolysaccharidosis type I
Amartino, Hernán.; Bay, Luisa.; Antacle, Alejandra.; Et al. (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 ... -
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo, Rosalba.; Verrigini, Daniela.; Rasmussen, Magnhild.; De Coo, Rene.; Amartino, Hernán.; Bianchi, Marzia.; Buhas, Daniela.; et al. (John Wiley & Sons, Inc. All rights reserved, 2016-03-01)BACKGROUND: The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with ... -
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 ... -
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Dominique, Germain.; Derralynn, Hughes.; Kathleen, Nicholls.; Daniel, Bichet.; Giugliani, Roberto.; Wilcox, William.; Amartino, Hernán.; et al. (Massachusetts Medical Society, 2016-08-11)BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms ...