Browsing Investigación Aplicada by Author "Amartino, Hernán."
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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 ... -
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, ... -
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 ... -
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 ...