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List of works by Maurizio Scarpa

Advanced healthcare for children and youth: application of targeted prevention, predictive diagnostics and personalised treatment approaches ⬇️

scientific article published on July 6, 2011

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry ⬇️

scientific article published on 09 November 2010

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

scientific article

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management ⬇️

scientific article published on July 9, 2011

Development and characterization of a binary gene expression system based on bacteriophage T7 components in adenovirus vectors ⬇️

scientific article published on July 9, 1997

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series ⬇️

scientific article published on 01 January 2010

Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model ⬇️

scientific article published on June 30, 2011

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, o

scientific article published on 01 April 2006

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy ⬇️

scientific article published on June 5, 2012

Evaluation of Lymphoid-Specific Enhancer Addition or Substitution in a Basic Retrovirus Vector ⬇️

scientific article published on January 1, 1991

Evaluation of disease severity in mucopolysaccharidoses ⬇️

scientific article published on January 1, 2010

ExGen 500 is an efficient vector for gene delivery to lung epithelial cells in vitro and in vivo ⬇️

scientific article published on October 1, 1997

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

scientific article published on 21 May 2013

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases ⬇️

scientific article published on April 11, 2012

In vitro and in vivo antitumor effects of retrovirus-mediated herpes simplex thymidine kinase gene-transfer in human medulloblastoma ⬇️

scientific article published on January 1, 1998

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer ⬇️

scientific article published on May 1, 1997

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

scientific article published on 23 May 2008

Mucopolysaccharidoses and Other Lysosomal Storage Diseases ⬇️

scientific article published on May 1, 2013

Newborn Screening in a Pandemic—Lessons Learned

scientific article published in 2023

Respiratory and sleep disorders in mucopolysaccharidosis

scientific article

Screening for cystic fibrosis gene mutations by multiplex DNA amplification

scientific article published on March 1, 1992

The blood‐brain barrier friend or foe? ⬇️

scientific article published on 01 May 2013

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

scientific article published on 03 December 2020

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus ⬇️

scientific article published on October 29, 2011

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