D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 77 Citations 20,054 698 World Ranking 13466 National Ranking 35

Overview

What is he best known for?

The fields of study he is best known for:

  • Internal medicine
  • Gene
  • Disease

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 most cited work include:

  • A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (445 citations)
  • 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. (293 citations)
  • Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) (218 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Internal medicine (30.90%)
  • Enzyme replacement therapy (22.61%)
  • Pediatrics (16.29%)

What were the highlights of his more recent work (between 2017-2021)?

  • Internal medicine (30.90%)
  • Enzyme replacement therapy (22.61%)
  • Mucopolysaccharidosis type I (8.71%)

In recent papers he was focusing on the following fields of study:

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.

Between 2017 and 2021, his most popular works were:

  • 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. (37 citations)
  • Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis (31 citations)
  • Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. (29 citations)

In his most recent research, the most cited papers focused on:

  • Internal medicine
  • Gene
  • Disease

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.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Epidemiology of mucopolysaccharidoses

Shaukat A. Khan;Hira Peracha;Diana Ballhausen;Alfred Wiesbauer.
Molecular Genetics and Metabolism (2017)

968 Citations

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)

655 Citations

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)

403 Citations

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

Rick Martin;Michael Beck;Christine Eng;Roberto Giugliani.
Pediatrics (2008)

377 Citations

Management guidelines for mucopolysaccharidosis VI.

Roberto Giugliani;Paul Harmatz;James E. Wraith.
Pediatrics (2007)

340 Citations

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)

314 Citations

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)

307 Citations

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)

294 Citations

Genetics of homocysteine metabolism and associated disorders.

S. Brustolin;R. Giugliani;T. M. Félix.
Brazilian Journal of Medical and Biological Research (2010)

269 Citations

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)

252 Citations

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