首页> Orphanet journal of rare diseases> Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

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

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第一作者： Roberto,Giugliani

第一单位： Dep Genetics UFRGS, Casa dos Raros, INAGEMP, Med Genet Serv HCPA, and DASA Genomics, Porto Alegre, Brazil. rgiugliani@hcpa.edu.br.

作者： Roberto,Giugliani ^[1] ; Antonio,Gonzalez-Meneses ^[2] ; Maurizio,Scarpa ^[3] ; Barbara,Burton ^[4] ; Raymond,Wang ^[5] ; Esmeralda,Martins ^[6] ; Esmeralda,Oussoren ^[7] ; Julia B,Hennermann ^[8] ; Brigitte,Chabrol ^[9] ; Christina L,Grant ^[10] ; Angela,Sun ^[11] ; Consuelo,Durand ^[12] ; Joel,Hetzer ^[13] ; Betsy,Malkus ^[13] ; Deborah,Marsden ^[13] ; J Lawrence,Merritt Ii ^[13]

作者单位： Dep Genetics UFRGS, Casa dos Raros, INAGEMP, Med Genet Serv HCPA, and DASA Genomics, Porto Alegre, Brazil. rgiugliani@hcpa.edu.br. ^[1] Hospital Universitario Virgen del Rocio, Seville, Spain. ^[2] Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy. ^[3] Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. ^[4] University of California Irvine School of Medicine, Children's Health of Orange County, Orange, CA, USA. ^[5] Centro Hospitalar Universitário de Santo António, Porto, Portugal. ^[6] Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[7] University Medical Center Mainz, Villa Metabolica, Mainz, Germany. ^[8] Centre Hospitalier Universitaire La Timone, Marseille, France. ^[9] Children's National Hospital, Washington, District of Columbia, USA. ^[10] Seattle Children's Hospital, Seattle, WA, USA. ^[11] Laboratorio Chamoles, Buenos Aires, Argentina. ^[12] Ultragenyx Pharmaceutical Inc, Novato, CA, USA. ^[13]

关键词 Lysosomal storage disease MPS VII Mucopolysaccharidosis VII Non-immune hydrops fetalis β-glucuronidase deficiency