Roberto Giugliani
Universidade Federal do Rio Grande do Sul(BR)Universidade Federal de Ciências da Saúde de Porto Alegre(BR)Santa Casa Hospital(BR)Centro Brasileiro de Estudos em Dermatologia(BR)Hospital de Clínicas de Porto Alegre(BR)ID Genomics (United States)(US)National Institute on Population Medical Genetics(BR)Instituto de Medicina Genómica(ES)Hospital de Clínicas(UY)Centro de Genomas (Brazil)(BR)Genomic (Brazil)(BR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Trypanosoma species research and implications, Glycogen Storage Diseases and Myoclonus, Metabolism and Genetic Disorders, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Epidemiology of mucopolysaccharidoses(2017)1,095 cited
- → A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)(2006)582 cited
- → Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat(2016)543 cited
- → Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study(2006)363 cited
- → Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)(2008)314 cited
- → Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey(2009)303 cited