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Bruno Bembi
Bruno Bembi
Director Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Italy
Verified email at aoud.sanita.fvg.it
Title
Cited by
Cited by
Year
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
4981996
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
3772003
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
3512002
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
2552014
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
2172009
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
2042008
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
1932001
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
1722003
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
1582018
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
1512006
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
1482009
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
1462007
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
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
1392007
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
1382015
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