Hernán Amartino

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler, Christine Duncan, Patricia L. Musolino et al. · New England Journal of Medicine · 2017 · 575 citations · Full text

<i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander disease

Morgan J. Prust, Jiaxian Wang, Hiroki Morizono et al. · Neurology · 2011 · 249 citations · Full text

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 124 citations

Clinical Trials, Cipaglucosidase Alfa, Pharmacotherapy +2

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

Priya S. Kishnani, Hernán Amartino, Christopher Lindberg et al. · American Journal of Medical Genetics Part A · 2013 · 106 citations

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations