Hernan M. Amartino
B, Argentina
Last Updated: 09/26/2026
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Found 43 publications
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.
Journal: Neurology. Genetics
Published: October 31, 2025
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.
Journal: Journal of inherited metabolic disease
Published: October 31, 2025
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: July 04, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Journal: JIMD reports
Published: April 25, 2025
Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.
Journal: Molecular genetics and metabolism reports
Published: November 18, 2024
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Journal: The New England journal of medicine
Published: October 09, 2024
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.
Journal: Orphanet journal of rare diseases
Published: June 27, 2024
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: May 22, 2024
Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C
Journal: Medicina
Published: August 15, 2023
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Journal: Orphanet journal of rare diseases
Published: April 14, 2023
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Journal: The Journal of pediatrics
Published: January 05, 2022
Last Updated: 09/26/2026