Roberto Giugliani

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

Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.

Authors:

Christine Í Dali Caroline Sevin Ingeborg Krägeloh-Mann Roberto Giugliani Norio Sakai James Wu Margaret Wasilewski

Mol Genet Metab 2020 Sep - Oct;131(1-2):235-244. Epub 2020 Jul 16.

Shire, a member of the Takeda group of companies, Lexington, MA, USA. Electronic address:

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July 2020

Precision Medicine for Lysosomal Disorders.

Authors:

Filippo Pinto E Vairo Diana Rojas Málaga Francyne Kubaski Carolina Fischinger Moura de Souza Fabiano de Oliveira Poswar Guilherme Baldo Roberto Giugliani

Biomolecules 2020 07 26;10(8). Epub 2020 Jul 26.

Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.

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July 2020

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.

Authors:

Simon A Jones Margaret McGovern Olivier Lidove Roberto Giugliani Pramod K Mistry Carlo Dionisi-Vici Maria-Veronica Munoz-Rojas Lubomyra Nalysnyk Alison D Schecter Melissa Wasserstein

Mol Genet Metab 2020 Sep - Oct;131(1-2):116-123. Epub 2020 Jun 24.

Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.

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June 2020

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.

Authors:

Fernanda Bender Maira G Burin Kristiane M Tirelli Fernanda Medeiros Fernanda Hendges de Bitencourt Gabriel Civallero Francyne Kubaski Heydy Bravo Antoine Daher Vanessa Carnier José F S Franco Roberto Giugliani

Genet Mol Biol 2020 29;43(2):e20180334. Epub 2020 May 29.

Hospital de Clínicas de Porto Alegre, Medical Genetics Service, Porto Alegre, RS, Brazil.

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May 2020

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer.

Authors:

Edenir Inêz Palmero Natalia Campacci Lavinia Schüler-Faccini Roberto Giugliani José Claudio Casali da Rocha Fernando Regla Vargas Patricia Ashton-Prolla

Genet Mol Biol 2020 22;43(2):e20190097. Epub 2020 Apr 22.

Universidade Federal do Rio Grande do Sul, Departamento de Genética, Porto Alegre, RS, Brazil.

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April 2020

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

Authors:

Roberto Giugliani Paul Harmatz Shuan-Pei Lin Maurizio Scarpa

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.

Authors:

Francyne Kubaski Fabiano de Oliveira Poswar Kristiane Michelin-Tirelli Maira Graeff Burin Diana Rojas-Málaga Ana Carolina Brusius-Facchin Sandra Leistner-Segal Roberto Giugliani

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.

Authors:

Francyne Kubaski Fabiano de Oliveira Poswar Kristiane Michelin-Tirelli Ursula da Silveira Matte Dafne D Horovitz Anneliese Lopes Barth Guilherme Baldo Filippo Vairo Roberto Giugliani

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

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.

Authors:

Rohini Sidhu Pamela Kell Dennis J Dietzen Nicole Y Farhat An Ngoc Dang Do Forbes D Porter Elizabeth Berry-Kravis Charles H Vite Janine Reunert Thorsten Marquardt Roberto Giugliani Charles M Lourenço Olaf Bodamer Raymond Y Wang Ellen Plummer Jean E Schaffer Daniel S Ory Xuntian Jiang

Mol Genet Metab 2020 04 22;129(4):292-302. Epub 2020 Jan 22.

Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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April 2020

Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C.

Authors:

Bruna Donida Marco Raabe Bárbara Tauffner Marcelo A de Farias Andryele Z Machado Fernanda Timm Rejane G Kessler Tatiane G Hammerschmidt Luiza S Reinhardt Verônica B Brito Rodrigo V Portugal Andressa Bernardi Rudimar Frozza Dinara J Moura Roberto Giugliani Fernanda Poletto Carmen R Vargas

J Inherit Metab Dis 2020 05 13;43(3):586-601. Epub 2020 Jan 13.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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May 2020

Estimated birth prevalence of mucopolysaccharidoses in Brazil.

Authors:

Andressa Federhen Gabriela Pasqualim Talita Freitas de Freitas Esteban Alberto Gonzalez Franciele Trapp Ursula Matte Roberto Giugliani

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

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.

Authors:

Esteban A Gonzalez Fernanda Visioli Gabriela Pasqualim Carolina F M de Souza Diane R Marinho Roberto Giugliani Ursula Matte Guilherme Baldo

Clin Exp Ophthalmol 2020 04 30;48(3):334-342. Epub 2020 Jan 30.

Gene Therapy Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.

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April 2020

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

Authors:

Roselena Silvestri Schuh Esteban Alberto Gonzalez Angela Maria Vicente Tavares Bruna Gazzi Seolin Lais de Souza Elias Luisa Natalia Pimentel Vera Francyne Kubaski Edina Poletto Roberto Giugliani Helder Ferreira Teixeira Ursula Matte Guilherme Baldo

Gene Ther 2020 02 11;27(1-2):74-84. Epub 2019 Dec 11.

Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.

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February 2020