Search Results - "Roberto Giugliani"

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

“…In January 1982, the Medical Genetics Unit of Hospital de Clinicas de Porto Alegre (HCPA) began its history in Brazil. It was elevated to a Medical Genetics…”
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Mucopolysacccharidoses: From understanding to treatment, a century of discoveries by Giugliani, Roberto

“…After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported…”
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Newborn Screening for Pompe Disease by Bodamer, Olaf A, Scott, C Ronald, Giugliani, Roberto

“…Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen…”
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The natural history of MPS I: global perspectives from the MPS I Registry by Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari

“…Purpose: In this study, we aimed to describe the natural history of mucopolysaccharidosis I. Methods: Data from 1,046 patients who enrolled in the MPS I…”
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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat by Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael

“…Migalastat stabilizes mutant α-galactosidase in Fabry's disease, reducing globotriaosylceramide deposition. In this study, the percentage of patients with a…”
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JIEMS Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017) by Giugliani, Roberto

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One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency by Diaz, George A., Jones, Simon A., Scarpa, Maurizio, Mengel, Karl Eugen, Giugliani, Roberto, Guffon, Nathalie, Batsu, Isabela, Fraser, Patricia A., Li, Jing, Zhang, Qi, Ortemann-Renon, Catherine

“…To assess olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children. This…”
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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 by Germain, Dominique P., Nicholls, Kathy, Giugliani, Roberto, Bichet, Daniel G., Hughes, Derralynn A., Barisoni, Laura M., Colvin, Robert B., Jennette, J. Charles, Skuban, Nina, Castelli, Jeffrey P., Benjamin, Elfrida, Barth, Jay A., Viereck, Christopher

“…Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype. Data were evaluated in…”
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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 by Giugliani, Roberto, Giugliani, Luciana, de Oliveira Poswar, Fabiano, Donis, Karina Carvalho, Corte, Amauri Dalla, Schmidt, Mathias, Boado, Ruben J, Nestrasil, Igor, Nguyen, Carol, Chen, Steven, Pardridge, William M

“…Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients…”
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Management Guidelines for Mucopolysaccharidosis VI by Giugliani, Roberto, Harmatz, Paul, Wraith, James E

“…Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant…”
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Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome by Schrover, Rudolf, Evans, Kathryn, Giugliani, Roberto, Noble, Ian, Bhattacharya, Kaustuv

“…Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual…”
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Understanding the natural history of Gaucher disease by Mistry, Pramod K., Belmatoug, Nadia, vom Dahl, Stephan, Giugliani, Roberto

“…Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that exhibits diverse manifestations, a broad range of age of onset of…”
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Phase I and II clinical trials for the mucopolysaccharidoses by Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto

“…The mucopolysaccharidoses are lysosomal diseases characterized by deficient activity of one of the enzymes that degrades glycosaminoglycans. Treatment options…”
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Clinical course of sly syndrome (mucopolysaccharidosis type VII) by Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

“…Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe…”
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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) by Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K

“…Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity…”
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Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS) by Muenzer, Joseph, Giugliani, Roberto, Scarpa, Maurizio, Tylki-Szymańska, Anna, Jego, Virginie, Beck, Michael

“…Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S)…”
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Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) by Martin, Rick, Beck, Michael, Eng, Christine, Giugliani, Roberto, Harmatz, Paul, Munoz, Veronica, Muenzer, Joseph

“…Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase,…”
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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation by McGovern, Margaret M, Wasserstein, Melissa P, Bembi, Bruno, Giugliani, Roberto, Mengel, K Eugen, Vanier, Marie T, Zhang, Qi, Peterschmitt, M Judith

“…Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This…”
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Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses by Pedrini, Diane Bressan, da Silva, Larissa Pozzebon, Vieira, Taiane Alves, Giugliani, Roberto

“…Primary Health Care (PHC) is the gateway for patients in the Brazilian unified health system ( Sistema Único de Saúde—SUS) , playing an extremely important…”
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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results by Diaz, George A, Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A, Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Li, Jing, Armstrong, Nicole M, Kim, Yong, Ortemann-Renon, Catherine, Kumar, Monica

“…Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid…”
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