Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
Martha Caterina Faraguna, Alexander Broomfield, Serena Gasperini, Yin‐Hsiu Chien et autres
1 citationNeurology Genetics
Hernán Amartino
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103Publications signalées
2484Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implicationsPeroxisome Proliferator-Activated ReceptorsCarbohydrate Chemistry and Synthesis
Publications récentes
Use of Brain MRI in Cerebral Adrenoleukodystrophy
Hemmo A. F. Yska, Marianne Golse, Damien Galanaud, Hernán Amartino et autres
2 citationsNeurology
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey
Siddarth Jain, Julian Raiman, Jennifer Audi, Joseph Muenzer et autres
0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)
Female Patients With Mucopolysaccharidosis II ( MPS II ): Insights From the Hunter Outcome Survey
Barbara K. Burton, Hernán Amartino, Roberto Giugliani, Christoph Kampmann et autres
0 citationsJIMD Reports
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey
Joseph Muenzer, Jaco Botha, Hernán Amartino, Roberto Giugliani et autres
2 citationsMolecular Genetics and Metabolism
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Shuan‐Pei Lin et autres
0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Joseph Muenzer, Hernán Amartino, Roberto Giugliani, Paul Harmatz et autres
2 citationsOrphanet Journal of Rare Diseases
Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards
Roberto Giugliani, Juan Politei, Ana Maria Martins, Nelson Murillo et autres
2 citationsMolecular Genetics and Metabolism Reports
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
Florian Eichler, Christine Duncan, Patricia L. Musolino, Troy C. Lund et autres
81 citationsNew England Journal of Medicine
Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
Joseph Muenzer, Hernán Amartino, Barbara K. Burton, Maurizio Scarpa et autres
6 citationsMolecular Genetics and Metabolism
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Benedikt Schoser, Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne et autres
30 citationsJournal of Neurology
Evaluation of Mobilization, Apheresis, and Conditioning Regimen and Engraftment in Patients Receiving One-Time Gene Therapy with Elivaldogene Autotemcel (Eli-cel) for Cerebral Adrenoleukodystrophy (CALD)
Christine Duncan, Paul J. Orchard, Florian Eichler, Jörn‐Sven Kühl et autres
2 citationsTransplantation and Cellular Therapy
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