Bruno Bembi

Bruno Bembi

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Bruno Bembi

Bruno Bembi

Publications by authors named "Bruno Bembi"

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85Publications

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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

J Inherit Metab Dis 2018 Mar 15;41(2):209-219. Epub 2017 Nov 15.

Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.

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March 2018

Facing up to limits: a lesson from the Charlie Gard case.

Minerva Anestesiol 2018 Feb 13;84(2):261-262. Epub 2017 Dec 13.

Unit of Intensive Care, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

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February 2018

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Mol Ther 2017 Sep 16;25(9):2117-2128. Epub 2017 Jun 16.

International Centre for Genetic Engineering and Biotechnology, Area Science Park, Padriciano, 34149 Trieste, Italy. Electronic address:

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September 2017

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

J Mol Diagn 2017 Sep 18;19(5):733-741. Epub 2017 Jul 18.

Regional Coordinator Centre for Rare Diseases, Academic Hospital Santa Maria della Misericordia, Udine, Italy. Electronic address:

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September 2017

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Orphanet J Rare Dis 2017 08 31;12(1):148. Epub 2017 Aug 31.

Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.

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August 2017

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Hum Mutat 2016 Feb 1;37(2):139-47. Epub 2015 Dec 1.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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February 2016

Profile of eliglustat tartrate in the management of Gaucher disease.

Ther Clin Risk Manag 2016 11;12:53-8. Epub 2016 Jan 11.

Regional Coordinator Center for Rare Diseases, Academic Hospital of Udine, Udine, Italy.

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January 2016

Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.

PLoS One 2014 14;9(11):e112503. Epub 2014 Nov 14.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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December 2015

Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.

Mol Genet Metab Rep 2015 12 29;5:67-71. Epub 2015 Oct 29.

Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.

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December 2015

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

FASEB J 2015 Sep 27;29(9):3839-52. Epub 2015 May 27.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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September 2015

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Annu Rev Genomics Hum Genet 2014 ;15:173-94

Department of Pharmacology, University of Oxford, Oxford OX1 3QT, United Kingdom; email:

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May 2015

Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patients.

Pharmacoepidemiol Drug Saf 2015 Mar 5;24(3):329-33. Epub 2015 Feb 5.

Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.

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March 2015

Enzyme replacement and substrate reduction therapy for Gaucher disease.

Cochrane Database Syst Rev 2015 Mar 27(3):CD010324. Epub 2015 Mar 27.

Israel Defense Forces Medical Corps, Haifa, Israel.

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March 2015

Gaucher disease and bone manifestations.

Calcif Tissue Int 2014 Dec 7;95(6):477-94. Epub 2014 Nov 7.

Head, Bone Metabolic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.

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December 2014

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

Mol Genet Metab 2014 Nov 4;113(3):213-8. Epub 2014 Aug 4.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.

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November 2014

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

BMC Cardiovasc Disord 2014 Jul 16;14:86. Epub 2014 Jul 16.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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July 2014

Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

Eur J Pediatr 2014 Jun 7;173(6):805-13. Epub 2014 Jan 7.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Ple. Santa Maria della Misericordia 15, Udine, 33100, Italy.

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June 2014

Functional analysis of 11 novel GBA alleles.

Eur J Hum Genet 2014 Apr 11;22(4):511-6. Epub 2013 Sep 11.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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April 2014

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Nucleic Acids Res 2014 Jan 22;42(2):1291-302. Epub 2013 Oct 22.

Regional Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy and International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.

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January 2014

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Mol Genet Metab 2013 Nov 7;110(3):329-35. Epub 2013 Aug 7.

Division of Metabolism, Department of Pediatric Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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November 2013

Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.

JIMD Rep 2013 1;7:117-22. Epub 2012 Jul 1.

Regional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", Piazzale Santa Maria della Misericordia 15, Udine, 33100, Italy,

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February 2013

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

JIMD Rep 2012 6;2:59-69. Epub 2011 Sep 6.

Regional Coordinator Centre for Rare Disease, University Hospital "Santa Maria della Misericordia", Piazzale "S. Maria della Misericordia", 15, 33100, Udine, Italy.

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February 2013

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Orphanet J Rare Dis 2013 Feb 21;8:34. Epub 2013 Feb 21.

Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

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February 2013

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.

J Inherit Metab Dis 2012 Nov 23;35(6):1101-6. Epub 2012 Mar 23.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.

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November 2012

Minimal disease activity in Gaucher disease: criteria for definition.

Mol Genet Metab 2012 Nov 17;107(3):521-5. Epub 2012 Aug 17.

Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.

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November 2012

Eye movement impairment recovery in a Gaucher patient treated with miglustat.

Neurol Res Int 2010 26;2010:358534. Epub 2010 Sep 26.

Department of Electronics (DEEI), University of Trieste, 34127 Trieste, Italy.

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July 2011

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Eur J Hum Genet 2011 Apr 22;19(4):422-31. Epub 2010 Dec 22.

Regional Coordinator Centre for Rare disease, University hospital 'Santa Maria della Misericordia', Udine, Italy.

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April 2011

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Mol Genet Metab 2011 Feb 29;102(2):226-8. Epub 2010 Oct 29.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

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February 2011

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

J Inherit Metab Dis 2010 Dec 14;33(6):727-35. Epub 2010 Sep 14.

Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.

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December 2010

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

J Cell Mol Med 2009 Sep 4;13(9B):3786-96. Epub 2008 Sep 4.

Unita di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy.

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September 2009

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

Pharmacoepidemiol Drug Saf 2009 Sep;18(9):770-7

Academic Medical Center, 1100 DE Amsterdam, The Netherlands.

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September 2009

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Mol Genet Metab 2009 Aug 3;97(4):309-11. Epub 2009 May 3.

Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.

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August 2009

Gaucher disease: improving management.

Acta Paediatr 2008 Apr;97(457):81-2

Centre for the Regional Coordination of Rare Diseases, Azienda Ospedialiero - Universitaria S. Maria della Misericordia, Udine, Italy.

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April 2008

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

Autophagy 2007 Nov-Dec;3(6):546-52. Epub 2007 Jun 15.

Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-1820, USA.

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January 2008

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

J Mol Med (Berl) 2006 Aug 13;84(8):692-700. Epub 2006 May 13.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Largo G. Gaslini, Genova 16147, Italy.

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August 2006

Generalized arterial calcification of infancy: two siblings with prolonged survival.

Eur J Pediatr 2006 Apr 29;165(4):258-63. Epub 2005 Nov 29.

S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l'Infanzia Burlo Garofolo, Via dell'Istria 65/1-34100, Trieste, Italy.

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April 2006

Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis.

J AAPOS 2005 Oct;9(5):501-3

D.E.E.I., University of Trieste, Trieste, Italy.

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October 2005

Pulmonary involvement in an adult female affected by type B Niemann Pick disease.

Sarcoidosis Vasc Diffuse Lung Dis 2005 Oct;22(3):229-33

Division of Respiratory Disease, Santa Maria Nuova Hospital, Reggio Emilia, Italy.

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October 2005

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Hum Mutat 2005 Jan;25(1):100

Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, I.R.C.C.S.G. Gaslini, Genova and International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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January 2005

Clinical quiz.

J Pediatr Gastroenterol Nutr 2004 May;38(5):533, 538

Clinica Pediatrica, Dipartimento di Radiologia, IRCCS "Burlo Garofolo," Università di Trieste, Italy.

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May 2004