2,351 results on '"Giugliani, Roberto"'
Search Results
52. Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights
53. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
54. Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS
55. 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)
56. A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)
57. 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)
58. 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
59. 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)
60. Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil
61. Disease progression in Sanfilippo type B: Case series of Brazilian patients
62. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
63. Impact of long‐term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
64. Clinical course of sly syndrome (mucopolysaccharidosis type VII)
65. Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey
66. Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)
67. RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565
68. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
69. Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
70. A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
71. List of Contributors
72. Genome editing in lysosomal disorders
73. Mucopolysaccharidoses
74. Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice
75. International guidelines for the management and treatment of Morquio A syndrome
76. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
77. 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
78. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study
79. In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system
80. Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
81. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
82. Reversal of interstitial lung disease after olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency
83. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
84. P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
85. Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice
86. Diagnosing mucopolysaccharidosis IVA
87. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
88. 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
89. Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy
90. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison
91. The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus
92. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
93. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
94. Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing
95. Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI
96. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
97. 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
98. Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches
99. P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
100. P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
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