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Bruno Bembi

Showing results (81-90 of 101) with videos related to

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Journal of Clinical Medicine|June 27, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient RegistryDeborah Elstein, Nadia Belmatoug, Bruno Bembi, et al.
Italian Journal of Pediatrics|September 15, 2020
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases networkMarco Salvatore, Agata Polizzi, Maria Chiara De Stefano, et al.
Blood Cells, Molecules & Diseases|December 22, 2009
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher diseaseCarla E M Hollak, Johannes M F G Aerts, Nadia Belmatoug, et al.
Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 18, 2014
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's diseaseLucilla Parnetti, Davide Chiasserini, Emanuele Persichetti, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Molecular Genetics and Metabolism|September 11, 2012
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiencyTommaso Fasano, Paolo Zanoni, Claudio Rabacchi, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.
Orphanet Journal of Rare Diseases|June 2, 2021
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
Journal of Clinical Medicine|June 27, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient RegistryDeborah Elstein, Nadia Belmatoug, Bruno Bembi, et al.
Italian Journal of Pediatrics|September 15, 2020
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases networkMarco Salvatore, Agata Polizzi, Maria Chiara De Stefano, et al.
Blood Cells, Molecules & Diseases|December 22, 2009
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher diseaseCarla E M Hollak, Johannes M F G Aerts, Nadia Belmatoug, et al.
Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 18, 2014
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's diseaseLucilla Parnetti, Davide Chiasserini, Emanuele Persichetti, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Molecular Genetics and Metabolism|September 11, 2012
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiencyTommaso Fasano, Paolo Zanoni, Claudio Rabacchi, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.
Orphanet Journal of Rare Diseases|June 2, 2021
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Pageof 11