2,351 results on '"Giugliani, Roberto"'
Search Results
202. Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
203. The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy
204. RGX-121 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE II (MPS II): INTERIM ANALYSIS OF DATA FROM A PHASE 1/2 STUDY
205. UPDATED RESULTS FROM A NOVEL, LONGITUDINAL, MULTICENTER DISEASE MONITORING PROGRAM (DMP) OF VESTRONIDASE ALFA FOR THE TREATMENT OF MUCOPOLYSACCHARIDOSIS VII (MPS VII)
206. RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM A PHASE 1/2 STUDY
207. Measurement of sulfatides in the amniotic fluid supernatant : a useful tool in the prenatal diagnosis of metachromatic leukodystrophy
208. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults : one-year results
209. Additional file 1 of Sanfilippo syndrome: consensus guidelines for clinical care
210. Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry
211. GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
212. Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I
213. Genome Editing: Potential Treatment for Lysosomal Storage Diseases
214. Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-l-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice
215. eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
216. Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
217. Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil
218. Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses
219. Continued improvement in pulmonary, visceral, biomarker and growth outcomes in children with chronic acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy: 2-year results of ASCEND-Peds
220. Baseline demographics and clinical characteristics of patients enrolled in the followME Fabry Pathfinders registry
221. Prospective longitudinal study of neurological disease trajectory in children living with late-infantile or juvenile onset of GM1 or GM2 gangliosidosis (PRONTO study)
222. Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program (DMP)
223. A phase 1/2 open-label, multicenter, dose ranging and confirmatory study to assess the safety, tolerability and efficacy of PBKR03 administered to pediatric subjects with early infantile Krabbe disease (globoid cell leukodystrophy; GALax-C)
224. A double-blind placebo-controlled phase 2 study to evaluate the safety and tolerability of pentosan polysulfate sodium in subjects with mucopolysaccharidosis type VI (MPS VI)
225. Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era
226. How complete is our clinical assessment of patients with mucopolysaccharidosis type II in real life? A question from the Hunter Outcome Survey (HOS)
227. Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis
228. WORLDSymposiumTM 2022⁎
229. RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in-human study
230. Identification of a biomarker that differentiates neuronopathic forms of MPS I and MPS II
231. Behavioral improvement in a 9-year-old patient with MPS II undergoing enzyme replacement therapy with pabinafusp alfa: A case report
232. Lyso-Gb3 as a biomarker for renal and cardiac involvement in Fabry disease: An analysis from the Fabry Outcome Survey (FOS)
233. Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable variants
234. Pilot study update: Newborn screening for lysosomal disorders in Brazil
235. RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in-human study
236. Two-year results of the ASCEND trial of olipudase alfa adults with chronic acid sphingomyelinase deficiency show parallel improvements in former placebo patients and further improvement in continuing olipudase alfa patients
237. The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective
238. Continued improvement in pulmonary outcomes in 3 clinical trials of olipudase alfa in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years
239. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
240. Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system
241. Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
242. Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy
243. Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders
244. COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
245. Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study
246. Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives
247. Ex vivogene therapy for lysosomal storage disorders: future perspectives
248. Consumption of Folic Acid-Fortified Flour and Folate-Rich Foods among Women at Reproductive Age in South Brazil
249. Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples
250. Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.