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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

The New England journal of medicine, 2017-10, Vol.377 (17), p.1630-1638

2017

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

PloS one, 2018-02, Vol.13 (2), p.e0191228-e0191228

2018

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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-357, Article 357

2023

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.137-137, Article 137

2019

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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.118-118, Article 118

2019

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Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)

Archivos argentinos de pediatría, 2021-02, Vol.119 (1), p.e41

2021

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Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy

Blood advances, 2022-03, Vol.6 (5), p.1512-1524

2022

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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Genetics and molecular biology, 2014-06, Vol.37 (2), p.315-329

2014

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

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2431-2443

2013

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New recommendations for the care of patients with mucopolysaccharidosis type I

Archivos argentinos de pediatría, 2021-04, Vol.119 (2), p.e121-e128

2021

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Pseudoneuronopathic form of Hunter syndrome

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S20-S20

2020

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A few challenges in mucopolysaccharidosis type I

Archivos argentinos de pediatría, 2021-06, Vol.119 (3)

2021

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Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America

Medicina (Buenos Aires), 2017, Vol.77 (3), p.173-179

2017

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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100572-100572, Article 100572

2020

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Epilepsy in mucopolysaccharidosis disorders

Molecular genetics and metabolism, 2017-12, Vol.122, p.55-61

2017

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Surgical management of neurological manifestations of mucopolysaccharidosis disorders

Molecular genetics and metabolism, 2017-12, Vol.122, p.41-48

2017

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Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.84-91

2014

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.875-879

2008

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How complete is our clinical assessment of patients with mucopolysaccharidosis type II in real life? A question from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S17-S17

2022

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Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES)

Epilepsia (Copenhagen), 2012-07, Vol.53 (7), p.1156-1161

2012

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Hunter Syndrome (Mucopolysaccharidosis II) – The Signs and Symptoms a Neurologist Needs to Know

European Neurological Review, 2015-06, Vol.10 (1), p.90

Amartino, Hernan

2015

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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

European journal of medical genetics, 2021-12, Vol.64 (12), p.104363-104363, Article 104363

2021

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Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.16-22

2007

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Terapia de reemplazo enzimático en la forma infantil de la enfermedad de Pompe: experiencia de un caso con 7 años de seguimiento en Argentina

Archivos argentinos de pediatría, 2012-08, Vol.110 (4), p.323-327

Amartino, Hernan

2012

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Identification of genetic variants in 79 Argentinean patients with mucopolysaccharidosis type II, Hunter syndrome

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107289, Article 107289

2023

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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)

Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

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

New recommendations for the care of patients with mucopolysaccharidosis type I

Pseudoneuronopathic form of Hunter syndrome

A few challenges in mucopolysaccharidosis type I

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Epilepsy in mucopolysaccharidosis disorders

Surgical management of neurological manifestations of mucopolysaccharidosis disorders

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

How complete is our clinical assessment of patients with mucopolysaccharidosis type II in real life? A question from the Hunter Outcome Survey (HOS)

Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES)

Hunter Syndrome (Mucopolysaccharidosis II) – The Signs and Symptoms a Neurologist Needs to Know

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

Terapia de reemplazo enzimático en la forma infantil de la enfermedad de Pompe: experiencia de un caso con 7 años de seguimiento en Argentina

Identification of genetic variants in 79 Argentinean patients with mucopolysaccharidosis type II, Hunter syndrome

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