720 results on '"Giugliani, Roberto"'
Search Results
2. Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses
3. Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
4. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
5. Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration
6. Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy
7. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
8. Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
9. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
10. α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
11. Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results
12. Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy
13. Pilot study of newborn screening for six lysosomal diseases in Brazil
14. Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
15. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
16. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
17. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report
18. The Impact of Pabinafusp Alfa on the Disease Burden in Hunter's Syndrome: Patient-Reported Outcomes.
19. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
20. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
21. Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
22. A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
23. Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)
24. Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice
25. In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system
26. A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
27. Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
28. Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice
29. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
30. Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
31. Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy
32. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison
33. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
34. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
35. Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity
36. Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder
37. Spinal cord issues in adult patients with MPS: transition of care survey
38. Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I
39. Deteccion de la mutacion E8SJM en el gen LIPA, por PCR en tiempo real, para la investigacion de la enfermedad por almacenamiento de esteres de colesterol/Detection of the E8SJM mutation in the LIPA gene, by real-time PCR, for the investigation of cholesteryl ester storage disease
40. A simple protocol for transfecting human mesenchymal stem cells
41. Intellectual Disability in a Birth Cohort : Prevalence, Etiology, and Determinants at the Age of 4 Years
42. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
43. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
44. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
45. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann–Pick diseases
46. Brain Imaging and Genetic Risk in the Pediatric Population, Part 1: Inherited Metabolic Diseases
47. Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
48. Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment
49. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
50. Lessons from molecular modeling human α-l-iduronidase
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.