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Bruno Bembi
Bruno Bembi
Director Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Italy
E-mail confirmado em aoud.sanita.fvg.it
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Occurrence of Parkinson's syndrome in type 1 Gaucher disease
O Neudorfer, N Giladi, D Elstein, A Abrahamov, T Turezkite, E Aghai, ...
QJM: An International Journal of Medicine 89 (9), 691-694, 1996
4991996
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
N Tayebi, J Walker, B Stubblefield, E Orvisky, ME LaMarca, K Wong, ...
Molecular genetics and metabolism 79 (2), 104-109, 2003
3802003
Skeletal aspects of Gaucher disease: a review
RJ Wenstrup, M Roca-Espiau, NJ Weinreb, B Bembi
The British journal of radiology 75 (suppl_1), A2-A12, 2002
3532002
Recommendations on the diagnosis and management of Niemann-Pick disease type C
JE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ...
Molecular genetics and metabolism 98 (1-2), 152-165, 2009
2982009
The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement
TM Cox, J Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, ...
Journal of inherited metabolic disease 26 (6), 513-526, 2003
2892003
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ...
Orphanet journal of rare diseases 13, 1-19, 2018
2622018
Cerebrospinal fluid lysosomal enzymes and alpha‐synuclein in Parkinson's disease
L Parnetti, D Chiasserini, E Persichetti, P Eusebi, S Varghese, ...
Movement Disorders 29 (8), 1019-1027, 2014
2562014
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study
M Pineda, JE Wraith, E Mengel, F Sedel, WL Hwu, M Rohrbach, B Bembi, ...
Molecular genetics and metabolism 98 (3), 243-249, 2009
2192009
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
MM McGovern, MP Wasserstein, R Giugliani, B Bembi, MT Vanier, ...
Pediatrics 122 (2), e341-e349, 2008
2062008
Management of neuronopathic Gaucher disease: a European consensus
A Vellodi, B Bembi, TB De Villemeur, T Collin-Histed
Journal of inherited metabolic disease 24 (3), 319, 2001
1942001
Gaucher’s disease with Parkinson’s disease: clinical and pathological aspects
B Bembi, S Zambito Marsala, E Sidransky, G Ciana, M Carrozzi, M Zorzon, ...
Neurology 61 (1), 99-101, 2003
1732003
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
AB Burlina, G Polo, L Salviati, G Duro, C Zizzo, A Dardis, B Bembi, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018
1592018
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ...
Journal of neurology 259, 952-958, 2012
1562012
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
ALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ...
Human mutation 27 (10), 999-1006, 2006
1522006
Management of neuronopathic Gaucher disease: revised recommendations
A Vellodi, A Tylki‐Szymanska, EH Davies, E Kolodny, B Bembi, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
1492009
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience
AT van der Ploeg, ME Kruijshaar, A Toscano, P Laforêt, C Angelini, ...
European journal of neurology 24 (6), 768-e31, 2017
1472017
Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease
G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ...
Molecular Therapy 15 (3), 508-514, 2007
1472007
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone
S Zampieri, SH Mellon, TD Butters, M Nevyjel, DF Covey, B Bembi, ...
Journal of cellular and molecular medicine 13 (9b), 3786-3796, 2009
1442009
Enzyme replacement and substrate reduction therapy for Gaucher disease
E Shemesh, L Deroma, B Bembi, P Deegan, C Hollak, NJ Weinreb, ...
Cochrane Database of Systematic Reviews, 2015
1402015
Deconstructing Pompe Disease by Analyzing Single Muscle Fibers:“To See a World in a Grain of Sand…”
N Raben, S Takikita, MG Pittis, B Bembi, SKN Marie, A Roberts, L Page, ...
Autophagy 3 (6), 546-552, 2007
1402007
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