409 results on '"Giugliani, Roberto"'
Search Results
2. 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)
3. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data
4. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments
5. Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multi-center disease monitoring program (DMP)
6. Survival, cardiac, and pulmonary outcomes in individuals with attenuated MPS I receiving laronidase enzyme replacement therapy: Data from the MPS I Registry
7. 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
8. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
9. Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD
10. Development of a suspicion index tool to aid diagnosis of ASMD disease
11. Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
12. Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches
13. 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
14. Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights
15. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
16. Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS
17. 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)
18. A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)
19. 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)
20. 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
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. Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
23. VESTRONIDASE ALFA FOR THE TREATMENT OF MUCOPOLYSACCHARIDOSIS VII (MPS VII): UPDATED RESULTS FROM A NOVEL, LONGITUDINAL, MULTICENTER DISEASE MONITORING PROGRAM
24. RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM THE FIRST IN HUMAN STUDY
25. MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY
26. Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy
27. Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2022) page 1–4].
28. Long-term neurodevelopmental changes in subjects with MPS II following long-term treatment with pabinafusp alfa: An integrated analysis from pre- and post-approval clinical trials in Brazil and Japan
29. Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
30. Ventricular vascular coupling in mucopolysaccharidosis types IVA and VI: Data from the baseline assessment of a phase II clinical trial
31. Nasal administration of laronidase-loaded liposomes aiming at mucopolysaccharidosis type I treatment
32. Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I
33. Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial
34. Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
35. Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
36. Utilization of next generation sequencing technology for detection of mosaic variants in the IDS gene
37. Prenatal diagnosis of Pompe disease
38. Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use
39. 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 type VI: Study update
40. Early transgene expression of GALC enzyme in a phase I/II safety, tolerability and efficacy study of PBKR03 in infants with early infantile Krabbe disease (EIKD) (GALax-C)
41. Clinical characteristics of female patients enrolled in the FollowME Fabry Pathfinders registry
42. A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment
43. Screening for mucopolysaccharidoses' subtypes by tandem mass spectrometry determination of disease-specific oligosaccharides in dried blood spots
44. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
45. Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey
46. A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis
47. Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multicenter Disease Monitoring Program (DMP)
48. Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
49. Biomarkers profiling in patients with mucopolysaccharidosis and correlation with other primary biomarkers
50. RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study
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