Roberto Giugliani - Genetic Mutations

Author Information

Roberto Giugliani is affiliated with the Medical Genetics Service at HCPA, the Department of Genetics at UFRGS, and the INAGEMP in Porto Alegre, Brazil. He is an esteemed researcher in the field of genetics, with a significant focus on lysosomal storage disorders and mucopolysaccharidoses.

Research Contributions

Roberto Giugliani has made substantial contributions to the understanding and treatment of genetic disorders, particularly lysosomal storage disorders. In 2022 alone, he published numerous papers on groundbreaking topics such as gene therapy for severe mucopolysaccharidosis types I and II, enzyme replacement therapy, and the impact of COVID-19 on children with these conditions. His research also includes novel diagnostic techniques and clinical studies aimed at improving patient outcomes.

Aliases

R Giugliani, R. Giugliani, Roberto Giugliani, Robert Giugliani

Publication and Citation Metrics

Metric	Value
Total Citations	18,564
h-index	70
Paper Count	881

Publications:

RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in-human study

DOI: 10.1016/j.ymgme.2021.11.132

Year: 2022

Pilot study update: Newborn screening for lysosomal disorders in Brazil

DOI: 10.1016/j.ymgme.2021.11.174

Year: 2022

Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses

DOI: 10.1016/j.ymgme.2021.11.172

Year: 2022

RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM A PHASE 1/2 STUDY

DOI: 10.1016/j.ymgme.2022.01.097

Year: 2022

A double-blind placebo-controlled phase 2 study to evaluate the safety and tolerability of pentosan polysulfate sodium in subjects with mucopolysaccharidosis type VI (MPS VI)

DOI: 10.1016/j.ymgme.2021.11.111

Year: 2022

Continued improvement in pulmonary, visceral, biomarker and growth outcomes in children with chronic acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy: 2-year results of ASCEND-Peds

DOI: 10.1016/j.ymgme.2021.11.082

Year: 2022

RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in-human study

DOI: 10.1016/j.ymgme.2021.11.335

Year: 2022

Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era

DOI: 10.1016/j.ymgme.2021.11.173

Year: 2022

Baseline demographics and clinical characteristics of patients enrolled in the followME Fabry Pathfinders registry

DOI: 10.1016/j.ymgme.2021.11.231

Year: 2022

The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective

DOI: 10.1016/j.ymgme.2021.11.238

Year: 2022

What Ethical Considerations are Associated with Biotechnology in Genetics?

What Research is Being Conducted?

What is a Mutation?

What Is the Mechanism Behind Asbestos-Induced Mutagenesis?

What are Some Common TKIs?

What is Brain Development?

How Are Translocations Diagnosed?

Is All Evolution Neutral?

How Do Genetic Mutations Affect Brain Development?

What are the Challenges in Data Analysis?

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