Hernán Amartino - Concepedia

Author

Hernán Amartino

Also Known As

Adriana Berretta, Guillermo Drelichman, H Amartino, H. Amartino, Henning Andersen, Hernan Amartino, Hernan M. Amartino, Hernán Amartino, Hernán M. Amartino, Isaac Kisinovsky

102

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Austral Austral University Consejo Nacional de Investigaciones Científicas y Técnicas Hospital Ramos Mejía Duke Medical Center

About

Hernán Amartino is an author at Hospital Universitario Austral specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	412
2	Molecular Genetics	2	2	61
3	Public Health	1	1	46
4	Nephrology	1	1	16
5	Neurology	1	1	17

Hernán Amartino

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy Florian Eichler, Christine Duncan, Patricia L. Musolino, New England Journal of Medicine	2017	575
<i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander disease Morgan J. Prust, Jiaxian Wang, Hiroki Morizono, Neurology	2011	249
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, The Lancet Neurology Clinical TrialsCipaglucosidase AlfaPharmacotherapyMedicineLate-onset Pompe Disease	2021	124
Timing of diagnosis of patients with pompe disease: Data from the pompe registry Priya S. Kishnani, Hernán Amartino, Christopher Lindberg, American Journal of Medical Genetics Part A	2013	106
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, Journal of Inherited Metabolic Disease	2015	87
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach Marta Córdoba, Sergio Alejandro Rodríguez‐Quiroga, Patricia Vega, PLoS ONE	2018	85
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Laura Adang, Omar Sherbini, Laura J. Ball, Molecular Genetics and Metabolism MedicineRheumatologySymptomatic CareConsensus Statement	2017	71
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy Florian Eichler, Christine Duncan, Patricia L. Musolino, New England Journal of Medicine	2024	59
Sulthiame add‐on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES) Natalio Fejerman, Roberto Caraballo, Ricardo Cersósimo, Epilepsia	2012	57
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Marian A. Kroos, Reinier A. Mullaart, Laura Van de Vliet, European Journal of Human Genetics Pompe DiseaseDisease SusceptibilityDisease MechanismDisease EtiologyPathogenesis	2008	50

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