466 results on '"Bembi, Bruno"'
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2. Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
3. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
4. Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia
5. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
6. microRNAs as biomarkers in Pompe disease
7. Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
8. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
9. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
10. Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study
11. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
12. Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
13. Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking
14. Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease
15. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)
16. Consensus clinical management guidelines for Niemann-Pick disease type C
17. Cerebrospinal fluid β‐glucocerebrosidase activity is reduced in parkinsonʼs disease patients
18. Gaucher Disease and Bone Manifestations
19. Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
20. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
21. Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α -Galactosidase A Protein
22. Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
23. Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy
24. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
25. Results from a 9-year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)-treated patients
26. Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
27. Endosperm-specific expression of human acid beta-glucosidase in a waxy rice
28. Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
29. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
30. Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinsonʼs disease
31. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
32. Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents
33. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
34. Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
35. Generalized arterial calcification of infancy: two siblings with prolonged survival
36. Recombinant human acid β-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblasts
37. Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
38. Myoclonic Epilepsy in Lysosomal Storage Disorders
39. Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease
40. Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking
41. Prospects in the Treatment of Rare Diseases 2nd International Conference Trieste, Italy, 23–26 May 2001
42. In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
43. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
44. Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study
45. Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
46. Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment
47. Preliminary data from first clinical trial of enzyme replacement therapy with olipudase alfa in pediatric patients with chronic visceral and neurovisceral acid sphingomyelinase deficiency
48. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation
49. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease†
50. Enigmatic In Vivo Iduronate-2-Sulfatase (IDS) Mutant Transcript Correction to Wild-Type in Hunter Syndrome
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