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Mostrati risultati da 41 a 60 di 164
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome. 2016 MAINARDI, CHIARARAMPAZZO, ANGELICASCARPA, MAURIZIOMESSINA, CHIARA + BONE MARROW TRANSPLANTATION - -
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders 2016 RIGON, LAURAD'AVANZO, FRANCESCAMARIN, ORIANOSCARPA, MAURIZIOTOMANIN, ROSELLA + PLOS ONE - -
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease 2016 D'AVANZO, FRANCESCAManara, RenzoSCARPA, MAURIZIO + CELL DEATH & DISEASE - -
Milde Mukopolysaccharidose-Formen 2016 SCARPA, MAURIZIO + AKTUELLE RHEUMATOLOGIE - -
Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system 2015 SCARPA, MAURIZIO + BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM - -
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency 2015 SCARPA, MAURIZIO + NEW ENGLAND JOURNAL OF MEDICINE - -
Prevalence of Anti-Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial 2015 SCARPA, MAURIZIO + HUMAN GENE THERAPY - -
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Inherited metabolic diseases 2015 D'AVANZO, FRANCESCASCARPA, MAURIZIO + ORPHANET JOURNAL OF RARE DISEASES - -
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening 2015 SCARPA, MAURIZIO + GENETICS IN MEDICINE - -
Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations 2015 SCARPA, MAURIZIO + HUMAN MUTATION - -
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years 2014 TOMANIN, ROSELLAZANETTI, ALESSANDRAD'AVANZO, FRANCESCARAMPAZZO, ANGELICAGASPAROTTO, NICOLETTABORGO, ANDREAFRIGO, ANNA CHIARASCARPA, MAURIZIO + ORPHANET JOURNAL OF RARE DISEASES - -
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders. 2014 GUCCIARDI, ANTONINALEGNINI, ELISATOMANIN, ROSELLASCARPA, MAURIZIOGIORDANO, GIUSEPPE + BIOMEDICAL CHROMATOGRAPHY - -
BBB Crossing in Lysosomal Storage Disorders: A Nanoparticle-Based Approach 2014 RIGON, LAURASALVALAIO, MARIKAD'AVANZO, FRANCESCASCARPA, MAURIZIOTOMANIN, ROSELLA + JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING - -
Intrathecal delivery of protein therapeutics to the brain: a critical reassessment 2014 SCARPA, MAURIZIO + PHARMACOLOGY & THERAPEUTICS - -
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). 2013 SCARPA, MAURIZIO + JIMD REPORTS - -
Mucopolysaccharidoses and other lysosomal storage diseases. 2013 SCARPA, MAURIZIO + RHEUMATIC DISEASE CLINICS OF NORTH AMERICA - -
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment 2013 TOMANIN, ROSELLAD'AVANZO, FRANCESCASALVALAIO, MARIKARIGON, LAURAZANETTI, ALESSANDRASCARPA, MAURIZIO + BMC MEDICAL GENOMICS - BMC Medical Genomics
Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia. 2013 GRISAFI, DAVIDEPOZZOBON, MICHELADEDJA, ARBENPORZIONATO, ANDREAMACCHI, VERONICASALMASO, ROBERTOSCARPA, MAURIZIOCozzi EFASSINA, AMBROGIOONISTO, MAURIZIOCAENAZZO, LUCIANADE COPPI, PAOLODE CARO, RAFFAELECHIANDETTI, LINO + PEDIATRIC PULMONOLOGY - -
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 2013 SCARPA, MAURIZIO + JOURNAL OF INHERITED METABOLIC DISEASE - -
Mostrati risultati da 41 a 60 di 164
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