PubRank

Maurizio Scarpa

Author PubWeight™ 47.23‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2007 3.40
2 A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015 2.77
3 Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006 2.38
4 Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 2008 2.04
5 Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 2011 1.70
6 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. J Inherit Metab Dis 2014 1.60
7 Immunologic privilege in the central nervous system and the blood-brain barrier. J Cereb Blood Flow Metab 2012 1.30
8 The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr 2011 1.27
9 Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des 2008 1.15
10 Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 2010 1.13
11 Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010 1.11
12 Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis 2012 1.11
13 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat 2011 1.07
14 Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis 2010 1.06
15 Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 2011 1.03
16 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta 2011 0.97
17 Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots. Clin Chim Acta 2008 0.97
18 High transduction efficiency of human amniotic fluid stem cells mediated by adenovirus vectors. Stem Cells Dev 2008 0.97
19 Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. Orphanet J Rare Dis 2014 0.93
20 Evaluation of disease severity in mucopolysaccharidoses. J Pediatr Rehabil Med 2010 0.93
21 Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A 2005 0.93
22 Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med 2005 0.92
23 Mucopolysaccharidoses and other lysosomal storage diseases. Rheum Dis Clin North Am 2013 0.90
24 Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis 2012 0.86
25 Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. Clin Chim Acta 2010 0.85
26 Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol 2010 0.85
27 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. Biomed Chromatogr 2014 0.83
28 Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis 2013 0.83
29 A novel functional role of iduronate-2-sulfatase in zebrafish early development. Matrix Biol 2009 0.83
30 Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). JIMD Rep 2013 0.83
31 TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis. Am J Med Genet A 2007 0.82
32 Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis 2010 0.81
33 Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases. Acta Paediatr 2012 0.81
34 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. Hum Gene Ther 2015 0.81
35 Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment. BMC Med Genomics 2013 0.81
36 Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. Eur J Hum Genet 2009 0.81
37 Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. Biotechnol Appl Biochem 2008 0.80
38 Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia. Pediatr Pulmonol 2013 0.80
39 Chiari 1 malformation and holocord syringomyelia in hunter syndrome. JIMD Rep 2013 0.77
40 A 10-year large-scale cystic fibrosis carrier screening in the Italian population. J Cyst Fibros 2009 0.77
41 Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. Mol Hum Reprod 2005 0.76
42 Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. JIMD Rep 2013 0.76
43 The biological clock and the molecular basis of lysosomal storage diseases. JIMD Rep 2015 0.76
44 A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus. JIMD Rep 2014 0.75
45 Seventh International Symposium on Lysosomal Storage Diseases. Acta Paediatr Suppl 2008 0.75
46 The blood-brain barrier friend or foe? J Inherit Metab Dis 2013 0.75
47 The role of visual electrophysiology in mucopolysaccharidoses. J Child Neurol 2012 0.75
48 Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. Gene 2013 0.75
49 Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations. Hum Mutat 2015 0.75
50 Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide. Dev Med Child Neurol 2012 0.75