Profil bibliographique

Roberto Giugliani

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

1414Publications signalées

25258Citations signalées

4Affiliations récentes

Institutions déclarées

Universidade Federal do Rio Grande do Sul Santa Casa Hospital Hospital de Clínicas de Porto Alegre National Institute on Population Medical Genetics

Domaines associés

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implicationsMetabolism and Genetic DisordersBiomedical Research and Pathophysiology

Publications récentes

2026 articleOpenAlex

Thirty-three years of X-linked adrenoleukodystrophy diagnosis at a Brazilian reference center: diagnostic patterns and key findings

Ana Kalise Böttcher, Ana Luiza da Silveira Pereira, Débora Tonelotto, Luisa Maria Bosquetti Tedesco et autres

0 citationsClinica Chimica Acta

Accès ouvert 2026 articleOpenAlex

The 14th UDNI conference, a landmark event: The first meeting of the undiagnosed diseases network international in the Southern Hemisphere and in Latin America

Roberto Giugliani

0 citationsRare

Accès ouvert 2026 articleOpenAlex

Variant profile of Brazilian patients with Sanfilippo syndrome type B

Alice Brinckmann Oliveira Netto, Ana Carolina Brusius‐Facchin, Kristiane Michelin‐Tirelli, Fernanda Medeiros Sebastião et autres

0 citationsGenetics and Molecular Biology

Accès ouvert 2025 articleOpenAlex

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)

Accès ouvert 2025 articleOpenAlex

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

Accès ouvert 2025 articleOpenAlex

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

Derralynn Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou et autres

0 citationsEuropean Journal of Clinical Investigation

Accès ouvert 2025 articleOpenAlex

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

Accès ouvert 2025 articleOpenAlex

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials

Cynthia J. Tifft, Isabela Batsu, Roberto Giugliani, Harmonie Goyeau et autres

2 citationsGenetics in Medicine

2025 articleOpenAlex

Current and Emerging Treatments for Acid Sphingomyelinase Deficiency

Tamires Silva Alves, Roberto Giugliani

0 citationsDrugs

Accès ouvert 2025 articleOpenAlex

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review

Barbara K. Burton, Daniel Fertek, Peter Chin, Carole Ho et autres

0 citationsMolecular Genetics and Metabolism

Accès ouvert 2025 articleOpenAlex

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador

Maria L. Moreira, Yorran Hardman Araújo Montenegro, Angélica Salatino‐Oliveira, Héctor Quintero Montano et autres

1 citationDiagnostics

Accès ouvert 2025 articleOpenAlex

Long‐Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency

Maurizio Scarpa, George A. Díaz, Roberto Giugliani, Simon Jones et autres

3 citationsJournal of Inherited Metabolic Disease

Profil ORCID Notice OpenAlex

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