58 results on '"Giugliani, Roberto"'
Search Results
2. α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
3. Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy
4. Pilot study of newborn screening for six lysosomal diseases in Brazil
5. Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
6. Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice
7. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
8. Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing
9. Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD
10. Interim results from the first-in-human intracisternal dosing of RGX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)
11. Performance measures and patient/caregiver-reported assessments collected in a longitudinal, multi-center disease monitoring program (DMP) of patients with mucopolysaccharidosis type VII (MPS VII)
12. Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
13. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments
14. A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)
15. Development of a suspicion index tool to aid diagnosis of ASMD disease
16. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
17. Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI
18. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
19. Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS
20. Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
21. CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
22. Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches
23. Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights
24. Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I
25. Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multi-center disease monitoring program (DMP)
26. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
27. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data
28. A phase 2, randomized, double-blind, placebo-controlled, multicentre study to evaluate the efficacy and safety of pentosan polysulfate sodium in treating subjects with mucopolysaccharidosis VI: Study update
29. Survival, cardiac, and pulmonary outcomes in individuals with attenuated MPS I receiving laronidase enzyme replacement therapy: Data from the MPS I Registry
30. Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil
31. Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches
32. A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)
33. P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
34. P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
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. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann–Pick diseases
38. Brain Imaging and Genetic Risk in the Pediatric Population, Part 1: Inherited Metabolic Diseases
39. VESTRONIDASE ALFA FOR THE TREATMENT OF MUCOPOLYSACCHARIDOSIS VII (MPS VII): UPDATED RESULTS FROM A NOVEL, LONGITUDINAL, MULTICENTER DISEASE MONITORING PROGRAM
40. RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM THE FIRST IN HUMAN STUDY
41. MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY
42. O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil
43. P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
44. P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program
45. Lessons from molecular modeling human α-l-iduronidase
46. Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-l-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice
47. Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)
48. 13 - Mucopolysaccharidoses
49. Amino acids levels and lipid peroxidation in maple syrup urine disease patients
50. Maple syrup urine disease in treated patients: Biochemical and oxidative stress profiles
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.