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Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.153-154

Giugliani, Roberto

2019

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Mucopolysacccharidoses: From understanding to treatment, a century of discoveries

Genetics and molecular biology, 2012-01, Vol.35 (4 (suppl)), p.924-931

Giugliani, Roberto

2012

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Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.110-110, Article 110

2018

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Newborn Screening for Pompe Disease

Pediatrics (Evanston), 2017-07, Vol.140 (Suppl 1), p.S4

2017

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The natural history of MPS I: global perspectives from the MPS I Registry

Genetics in medicine, 2014-10, Vol.16 (10), p.759-765

2014

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JIEMS Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017)

Journal of inborn errors of metabolism and screening, 2018-08, Vol.6, p.232640981879624

Giugliani, Roberto

2018

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555

2016

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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

Genetics in medicine, 2019-09, Vol.21 (9), p.1987-1997

2019

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One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Genetics in medicine, 2021-08, Vol.23 (8), p.1543-1550

2021

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Management guidelines for mucopolysaccharidosis VI

Pediatrics (Evanston), 2007-08, Vol.120 (2), p.405

2007

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Understanding the natural history of Gaucher disease

American journal of hematology, 2015-07, Vol.90 (S1), p.S6-S11

2015

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Phase I and II clinical trials for the mucopolysaccharidoses

Expert opinion on investigational drugs, 2017-12, Vol.26 (12), p.1331-1340

2017

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)

Pediatrics (Evanston), 2008-02, Vol.121 (2), p.e377

2008

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Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.161-161, Article 161

2017

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Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses

Journal of community genetics, 2024-04, Vol.15 (2), p.129-135

2024

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Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.456-14, Article 456

2021

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.1-324, Article 324

2020

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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.212-212, Article 212

2021

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Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.78-78, Article 78

2017

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Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

International journal of molecular sciences, 2021-09, Vol.22 (17), p.9200

2021

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Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clinical genetics, 2019-10, Vol.96 (4), p.281-289

2019

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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

International journal of molecular sciences, 2021-10, Vol.22 (20), p.10938

2021

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Treatment of brain disease in the mucopolysaccharidoses

Molecular genetics and metabolism, 2017-12, Vol.122, p.25-34

2017

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Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

Gene therapy, 2020-02, Vol.27 (1-2), p.74-84

2020

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Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil

Mucopolysacccharidoses: From understanding to treatment, a century of discoveries

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

Newborn Screening for Pompe Disease

The natural history of MPS I: global perspectives from the MPS I Registry

JIEMS Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017)

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Management guidelines for mucopolysaccharidosis VI

Understanding the natural history of Gaucher disease

Phase I and II clinical trials for the mucopolysaccharidoses

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

Treatment of brain disease in the mucopolysaccharidoses

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

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