Roberto Giugliani

基本信息

浏览量：7

职业迁徙

个人简介

Dr. Giugliani's research interest is the field of inborn errors of metabolism, particularly lysosomal disorders. In 2007, he received the FAPERGS Prize Medal from Brazil for his contributions to science.

研究兴趣

论文共 1333 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Performance measures and patient/caregiver-reported assessments collected in a longitudinal, multi-center disease monitoring program (DMP) of patients with mucopolysaccharidosis type VII (MPS VII)

Betsy C. Malkus, Jeanne M. Cohen,Christina L. Grant,Maurizio Scarpa,Angela Sun,Raymond Y. Wang,Barbara K. Burton, Esmeralda Oussoren,Esmeralda E. Martins, Consuelo Durand,Brigitte Chabrol, Lionel Ortiz,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

引用0浏览0引用

Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I

Roberto Giugliani, Paul Harmatz,Ana Maria Martins,Takashi Hamazaki,Ryutaro Kira,Toru Kubo,Yuji Sato, Hiroaki Moriuchi,Satoshi Kawashima,Toshiaki Ikeda,Sairei So,Kazunori Tanizawa,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

引用0浏览0引用

Transport^?NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)

Caroline A. Hastings,Ozlem Goker-Alpan,Loren Pena, Jordi Gascon Bayarri, Elena Martin-Hernandez, Reena Sharma,Orna Staretz Chacham, Ronen Spiegel, Eugen Mengel,Mark Walterfang,Heidi Peters,Victor S. Fung,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

引用0浏览0引用

A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

Nicole M. Muschol,Barbara K. Burton, Can Ficicioglu,Martin Magner,Mercedes Gil-Campos, Monica Lopez-Rodriguez,Parul Jayakar, Allan Lund,Galit Tal, Jose E. Garcia, Karolina M. Stepien,Carolyn Ellaway,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024): 101385

引用0浏览0引用

Early clinical response and continued safety with vestronidase ALFA for the treatment of mucopolysaccharidosis VII (MPS VII)

Barbara Burton,Roberto Giugliani, Antonio Gonzalez-Meneses,Christina Lee Grant,Maurizio Scarpa,Angela Sun,Raymond Wang,Ans Van der Ploeg,Esmeralda Martins, Consuelo Durand,Brigitte Chabrol,Joel Hetzer,

Molecular Genetics and Metabolismno. 4 (2024): 108212

引用0浏览0引用

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Roberto Giugliani,Antonio Gonzalez-Meneses, Maurizio Scarpa,Barbara Burton, Raymond Wang,Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann,Brigitte Chabrol, Christina L. Grant,Angela Sun, Consuelo Durand,

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

引用0浏览0WOS引用

A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)