Publications by authors named "Roberto Giugliani"

352 Publications

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.

Orphanet J Rare Dis 2021 Jan 6;16(1). Epub 2021 Jan 6.

Ann & Robert H. Lurie Children's Hospital and Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

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January 2021

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet J Rare Dis 2020 11 18;15(1):324. Epub 2020 Nov 18.

Cell, Tissue and Gene Laboratory, Clinicas Hospital of Porto Alegre, Rio Grande do Sul, Brazil.

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November 2020

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.

Int J Neonatal Screen 2020 Nov 13;6(4). Epub 2020 Nov 13.

Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil.

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November 2020

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.

Arch Dis Child 2020 Nov 2. Epub 2020 Nov 2.

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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November 2020

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).

Curr Pharm Des 2020 ;26(40):5100-5109

Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.

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January 2020

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.

Am J Med Genet A 2020 12 18;182(12):2891-2901. Epub 2020 Sep 18.

Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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December 2020

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

Mol Genet Metab 2020 Sep - Oct;131(1-2):181-196. Epub 2020 Aug 31.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Shapiro Neuropsychology Consulting LLC, Portland, OR, USA. Electronic address:

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August 2020

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.

Orphanet J Rare Dis 2020 04 19;15(1):97. Epub 2020 Apr 19.

Regional Center for Rare Diseases, University Hospital of Udine, Udine, Italy.

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April 2020

Diagnosis of Mucopolysaccharidoses.

Diagnostics (Basel) 2020 Mar 22;10(3). Epub 2020 Mar 22.

Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.

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March 2020

Mucopolysaccharidosis Type I.

Diagnostics (Basel) 2020 Mar 16;10(3). Epub 2020 Mar 16.

Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil.

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March 2020

Estimated birth prevalence of mucopolysaccharidoses in Brazil.

Am J Med Genet A 2020 03 11;182(3):469-483. Epub 2020 Jan 11.

Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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March 2020

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Mol Genet Metab Rep 2019 Sep 19;20:100494. Epub 2019 Jul 19.

Medical Genetics Service, HCPA and Department of Genetics, UFRGS, Porto Alegre, Brazil.

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September 2019