68 results on '"Giugliani, Roberto"'
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2. Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
3. Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses
4. Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy
5. 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
6. 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
7. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
8. Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
9. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
10. Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results
11. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
12. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
13. Sanfilippo syndrome: consensus guidelines for clinical care
14. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
15. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report
16. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
17. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
18. Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
19. A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
20. 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)
21. Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice
22. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
23. 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
24. Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy
25. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison
26. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
27. Spinal cord issues in adult patients with MPS: transition of care survey
28. Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I
29. A simple protocol for transfecting human mesenchymal stem cells
30. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
31. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
32. Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?
33. Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment
34. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
35. Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
36. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
37. Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I
38. Genome Editing: Potential Treatment for Lysosomal Storage Diseases
39. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
40. Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
41. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
42. The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent
43. Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
44. Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits
45. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)
46. Diagnosing mucopolysaccharidosis IVA
47. Respiratory and sleep disorders in mucopolysaccharidosis
48. Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI
49. Inclusion of medical genetics in primary health care: report of a pilot project in Brazil
50. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America
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