SCARPA, MAURIZIO

SCARPA, MAURIZIO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 142 (tempo di esecuzione: 0.033 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A 10-year large-scale cystic fibrosis carrier screening in the Italian population. 2010 FRIGO, ANNA CHIARASCARPA, MAURIZIO + JOURNAL OF CYSTIC FIBROSIS - -
A 3-year-old child with abdominal pain and fever 2005 SCARPA, MAURIZIOCARRARO, SILVIABARALDI, EUGENIO + EUROPEAN RESPIRATORY JOURNAL - -
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 - -
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net 2021 Scarpa M.Donati M. A. + JOURNAL OF INHERITED METABOLIC DISEASE - -
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 - -
A novel functional role of iduronate-2-sulfatase in zebrafish early development. 2010 MORO, ENRICOTISO, NATASCIASCARPA, MAURIZIOARGENTON, FRANCESCO + MATRIX BIOLOGY - -
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency 2015 SCARPA, MAURIZIO + NEW ENGLAND JOURNAL OF MEDICINE - -
A PILOT SCREENING FOR CF CARRIERS IN THE NORTH EAST ITALIAN POPULATION 1993 SCARPA, MAURIZIOS. BedinANGLANI, FRANCA + PEDIATRIC PULMONOLOGY - -
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results 2022 Scarpa M. + GENETICS IN MEDICINE - -
A rapid testing procedure for Fabry disease: alpha-galadosidase A assay in dried blood spots 2008 GASPAROTTO, NICOLETTATOMANIN, ROSELLAFRIGO, ANNA CHIARASCARPA, MAURIZIO + ACTA PAEDIATRICA - -
Acid sphingomyelinase deficiency: A clinical and immunological perspective 2021 Scarpa M. + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
An international classification of inherited metabolic disorders (ICIMD) 2021 Ali H.Scarpa M.Zeviani M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry 2010 SCARPA, MAURIZIO + CLINICA CHIMICA ACTA - -
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. 2011 SCARPA, MAURIZIO + CLINICA CHIMICA ACTA - -
Antagonistic controls regulate copy number of the yeast 2 mu plasmid. 1987 SCARPA, MAURIZIO + EMBO JOURNAL - -
Antiretroviral activity of furocoumarins plus UVA light detected by a replication-defective retrovirus 1994 MIOLO, GIORGIATOMANIN, ROSELLADE ROSSI, ANITADALL'ACQUA, FRANCESCOZACCHELLO, FRANCOSCARPA, MAURIZIO JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY - -
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses 2020 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network 2020 Scarpa M.Simonati A. + ORPHANET JOURNAL OF RARE DISEASES - -
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 - -
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. 2011 MANARA RSCARPA, MAURIZIO + JOURNAL OF INHERITED METABOLIC DISEASE - -