Now showing items 1-5 of 5

    • Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years 

      Amartino, Hernan.; 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, Hernan. (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, Hernan.; 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, ...
    • 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, Hernan.; 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, Hernan.; 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 ...