B
Bruno Bembi
Researcher at IRCCS Materno Infantile Burlo Garofolo
Publications - 140
Citations - 6648
Bruno Bembi is an academic researcher from IRCCS Materno Infantile Burlo Garofolo. The author has contributed to research in topics: Enzyme replacement therapy & Miglustat. The author has an hindex of 44, co-authored 139 publications receiving 5870 citations.
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Journal ArticleDOI
Occurrence of Parkinson's syndrome in type I Gaucher disease.
Orit Neudorfer,N. Giladi,Deborah Elstein,A Abrahamov,T. Turezkite,E. Aghai,A. Reches,Bruno Bembi,Ari Zimran +8 more
TL;DR: The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy.
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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Nahid Tayebi,Jamie M. Walker,Barbara K. Stubblefield,Eduard Orvisky,Mary E. LaMarca,Kondi Wong,Hanna Rosenbaum,Raphael Schiffmann,Bruno Bembi,E. Sidransky +9 more
TL;DR: The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism.
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The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
Timothy M. Cox,Johannes M. F. G. Aerts,Generoso Andria,M Beck,Nadia Belmatoug,Bruno Bembi,Raul Chertkoff,S. vom Dahl,Deborah Elstein,Anders Erikson,Manuel Giralt,Rene Heitner,C.E.M. Hollak,M. Hrebicek,S. A. Lewis,Atul Mehta,Gregory M. Pastores,Arndt Rolfs,M.C. Sá Miranda,Ari Zimran +19 more
TL;DR: The treatment of type 1 (non-neuronopathic) Gaucher disease is evaluated with particular reference to the emerging role of oral N-butyldeoxynojirimycin (miglustat) as a substrate-reducing agent.
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Skeletal aspects of Gaucher disease: a review.
TL;DR: The availability of a beta-glucocerebrosidase-deficient mouse model of Gaucher disease with long-term survival should help elucidate the skeletal pathology in Gauchers disease and may ultimately lead to improved management of skeletal complications.
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Recommendations on the diagnosis and management of Niemann-Pick disease type C
James E. Wraith,Matthias R. Baumgartner,Bruno Bembi,Athanasios Covanis,Thierry Levade,Eugen Mengel,Mercè Pineda,Frédéric Sedel,Meral Topçu,Marie T. Vanier,Håkan Widner,Frits A. Wijburg,Marc C. Patterson +12 more
TL;DR: This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting.