His primary areas of study are Enzyme replacement therapy, Internal medicine, Mucopolysaccharidosis, Pediatrics and Surgery. His studies deal with areas such as Fabry disease, Hunter syndrome and Arylsulfatase B as well as Enzyme replacement therapy. His Internal medicine research integrates issues from Gastroenterology and Endocrinology.
His study in Mucopolysaccharidosis is interdisciplinary in nature, drawing from both Urine, Medical history and Mucopolysaccharidosis Type IVA. His Pediatrics research incorporates elements of Hydrops fetalis, Lysosomal storage disease, Treatment outcome, Hepatosplenomegaly and Age of onset. He interconnects Adverse effect and Urology in the investigation of issues within Surgery.
His scientific interests lie mostly in Internal medicine, Enzyme replacement therapy, Pediatrics, Genetics and Mucopolysaccharidosis. His Internal medicine research includes elements of Gastroenterology and Endocrinology. His research integrates issues of Clinical trial, Surgery, Immunology and Hunter syndrome in his study of Enzyme replacement therapy.
The Hunter syndrome study combines topics in areas such as Idursulfase and Mucopolysaccharidosis type II. His research on Pediatrics often connects related topics like Natural history. The various areas that Roberto Giugliani examines in his Mucopolysaccharidosis type I study include Iduronidase and Mucopolysaccharidosis I.
Roberto Giugliani focuses on Internal medicine, Enzyme replacement therapy, Mucopolysaccharidosis type I, Pediatrics and Mucopolysaccharidosis. His study looks at the relationship between Internal medicine and fields such as Gastroenterology, as well as how they intersect with chemical problems. His Enzyme replacement therapy study necessitates a more in-depth grasp of Disease.
The concepts of his Disease study are interwoven with issues in Genetic enhancement and Hunter syndrome. His Pediatrics research is multidisciplinary, relying on both Observational study, Natural history and Coarse facial features. His research in Mucopolysaccharidosis intersects with topics in Immunology, Lysosomal storage disorders, Newborn screening and Transplantation.
His primary scientific interests are in Enzyme replacement therapy, Internal medicine, Mucopolysaccharidosis type I, Mucopolysaccharidosis and Pharmacology. The subject of his Enzyme replacement therapy research is within the realm of Disease. His study in Gastroenterology extends to Internal medicine with its themes.
His Mucopolysaccharidosis type I study combines topics in areas such as Respiratory function, Respiratory system, Hurler syndrome and Mucopolysaccharidosis I. His study in Mucopolysaccharidosis is interdisciplinary in nature, drawing from both Missense mutation, Immunology, Urinary system, Gene and Transplantation. His Pharmacology research is multidisciplinary, incorporating elements of Iduronidase, Receptor antibody and Enzyme.
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Epidemiology of mucopolysaccharidoses
Shaukat A. Khan;Hira Peracha;Diana Ballhausen;Alfred Wiesbauer.
Molecular Genetics and Metabolism (2017)
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer;James E Wraith;Michael Beck;Roberto Giugliani.
Genetics in Medicine (2006)
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Dominique P Germain;Derralynn A Hughes;Kathleen Nicholls;Daniel G Bichet.
The New England Journal of Medicine (2016)
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
Rick Martin;Michael Beck;Christine Eng;Roberto Giugliani.
Management guidelines for mucopolysaccharidosis VI.
Roberto Giugliani;Paul Harmatz;James E. Wraith.
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.
Paul Harmatz;Roberto Giugliani;Ida Schwartz;Nathalie Guffon.
The Journal of Pediatrics (2006)
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
A. Mehta;M. Beck;P. Elliott;R. Giugliani.
The Lancet (2009)
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey
A Mehta;J T R Clarke;R Giugliani;P Elliott.
Journal of Medical Genetics (2009)
Genetics of homocysteine metabolism and associated disorders.
S. Brustolin;R. Giugliani;T. M. Félix.
Brazilian Journal of Medical and Biological Research (2010)
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
Elizabeth A. Braunlin;Paul R. Harmatz;Maurizio Scarpa;Beatriz Furlanetto.
Journal of Inherited Metabolic Disease (2011)
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