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1

Inborn Errors of Metabolism Involving Complex Molecules

Bellettato, Cinzia Maria, Hubert, Leroy, Scarpa, Maurizio, Wangler, Michael F.

Journal:

Pediatric Clinics of North America

Year:

2018

Language:

english

File:

PDF, 2.33 MB

english, 2018

2

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

Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

Language:

english

File:

PDF, 1.23 MB

english, 2020

3

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampm

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 427 KB

english, 2011

4

Gene therapy: A new approach for the treatment of genetic disorders

Cournoyer, Denis, Scarpa, Maurizio, Jones, Stephen N, Moore, Kateri A, Belmont, John W, Caskey, C Thomas

Journal:

Clinical Pharmacology & Therapeutics

Year:

1990

Language:

english

File:

PDF, 1.06 MB

english, 1990

5

[IEEE 2009 IEEE Symposium on Computers and Communications (ISCC) - Sousse, Tunisia (2009.07.5-2009.07.8)] 2009 IEEE Symposium on Computers and Communications - A multi-sink swarm-based routing protocol for Wireless Sensor Networks

Paone, Maurizio, Paladina, Luca, Scarpa, Marco, Puliafito, Antonio

Year:

2009

Language:

english

File:

PDF, 375 KB

english, 2009

6

BURNOUT AND SELF-PERCEPTIONS OF PHYSICAL FITNESS IN A SAMPLE OF ITALIAN PHYSICAL EDUCATION TEACHERS 1

CARRARO, ATTILIO, SCARPA, STEFANO, GOBBI, ERICA, BERTOLLO, MAURIZIO, ROBAZZA, CLAUDIO

Journal:

Perceptual and Motor Skills

Year:

2010

Language:

english

File:

PDF, 325 KB

english, 2010

7

[ASME ASME 8th Biennial Conference on Engineering Systems Design and Analysis - Torino, Italy (July 4–7, 2006)] Volume 1: Advanced Energy Systems, Advanced Materials, Aerospace, Automation and Robotics, Noise Control and Acoustics, and Systems Engineering - A Compact Dynamic Model for Vapor Compression Refrigerated Systems

Tagliafico, Luca A., Scarpa, Federico, Senarega, Maurizio

Year:

2006

Language:

english

File:

PDF, 261 KB

english, 2006

8

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Muenzer, Joseph, Giugliani, Roberto, Scarpa, Maurizio, Tylki-Szymańska, Anna, Jego, Virginie, Beck, Michael

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 595 KB

english, 2017

9

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki-Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 423 KB

english, 2018

10

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

Parini, Rossella, Broomfield, Alexander, Cleary, Maureen Anne, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem Mahmoud, Guffon, Nathalie, Lampe, Christina, Lund, Allan Meldgaard, Scarpa, Maurizio

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 534 KB

english, 2018

11

Possible strategies to cross the blood–brain barrier

Bellettato, Cinzia M., Scarpa, Maurizio

Journal:

Italian Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 750 KB

english, 2018

12

Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme

Hendriksz, Christian, Giugliani, Roberto, Harmatz, Paul, Scarpa, Maurizio

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 139 KB

english, 2019

13

Research activity and capability in the European reference network MetabERN

Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.12 MB

english, 2019

14

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Scarpa, Maurizio

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 528 KB

2020

15

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience

Sechi, Annalisa, Macor, Daniela, Valent, Serena, Da Riol, Rosalia Maria, Zanatta, Manuela, Spinelli, Alessandro, Bianchi, Katja, Bertossi, Nadia, Dardis, Andrea, Valent, Francesca, Scarpa, Maurizio

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 328 KB

2020

16

Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement

Luigi Picci, Marilena Cameran, Paola Olante, Franco Zacchello, Maurizio Scarpa

Journal:

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

17

A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy

Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Maurizio Scarpa, Michel Goossens, Francesco Salvatore

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

18

Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients

Patrick S. Moore, Davide Antonello, Guido Martignoni, Chiara Racchini, Maurizio Ventrucci, Aldo Scarpa

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

19

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers

Carlo Castellani, Luigi Picci, Maurizio Scarpa, Maria Cristina Dechecchi, Luisa Zanolla, Baroukh Maurice Assael, Franco Zacchello

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

20

TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis

Luigi Picci, Marilena Cameran, Maurizio Scarpa, Ugo Pradal, Paola Melotti, Baroukh M. Assael, Carlo Castellani

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 69 KB

english, 2007

21

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

Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki-Szymanska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Ant

Journal:

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

22

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts

Adelaide Friso, Rosella Tomanin, Sabrina Alba, Nicoletta Gasparotto, Elisabetta Piller Puicher, Mariella Fusco, Gonzalo Hortelano, Joseph Muenzer, Oriano Marin, Franco Zacchello, Maurizio Scarpa

Journal:

The Journal of Gene Medicine

Year:

2005

Language:

english

File:

PDF, 533 KB

english, 2005

23

Enzyme immunoassay by polarography — a preliminary study

Cafiero Franconi, Maurizio Bonori, Emilio F. Orsega, Marina Scarpa, Adelio Rigo

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Year:

1987

Language:

english

File:

PDF, 320 KB

english, 1987

24

Gene therapy

Denis Cournoyer, Maurizio Scarpa, C.Thomas Caskey

Journal:

Current Opinion in Biotechnology

Year:

1990

Language:

english

File:

PDF, 1.81 MB

english, 1990

25

Screening for cystic fibrosis gene mutations by multiplex DNA amplification

Luigi Picci, Franca Anglani, Maurizio Scarpa, Franco Zacchello

Journal:

Year:

1992

Language:

english

File:

PDF, 919 KB

english, 1992

26

Mediastinal large-cell lymphoma with sclerosis

Aldo Scarpa, Franco Bonetti, Fabio Menestrina, Marta Menegazzi, Marco Chilosi, Maurizio Lestani, Chiara Bovolenta, Giuseppe Zamboni, L. Fiore-Donati

Journal:

Virchows Archiv

Year:

1987

Language:

english

File:

PDF, 478 KB

english, 1987

27

Rod in loop ileostomy: just an insignificant detail for ileostomy-related complications?

Marco Scarpa, Laura Sadocchi, Cesare Ruffolo, Maurizio Iacobone, Teresa Filosa, Daniela Prando, Lino Polese, Mauro Frego, Davide F. D’Amico, Imerio Angriman

Journal:

Langenbeck's Archives of Surgery

Year:

2007

Language:

english

File:

PDF, 167 KB

english, 2007

28

Constitutive expression of ΔN-p63α isoform in human thymus and thymic epithelial tumours

Marco Chilosi, Alberto Zamò, Antonietta Brighenti, Giorgio Malpeli, Licia Montagna, Paola Piccoli, Serena Pedron, Maurizio Lestani, Giorgio Inghirami, Aldo Scarpa, Claudio Doglioni, Fabio Menestrina

Journal:

Virchows Archiv

Year:

2003

Language:

english

File:

PDF, 686 KB

english, 2003

29

Molecular characterization of composite mantle cell and follicular lymphoma

Alberto Zamò, Roberta Zanotti, Maurizio Lestani, German Ott, Tiemo Katzenberger, Aldo Scarpa, Giovanni Pizzolo, Fabio Menestrina, Marco Chilosi

Journal:

Virchows Archiv

Year:

2006

Language:

english

File:

PDF, 265 KB

english, 2006

30

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

J. Edmond Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meirleir, Nathalie Guffon, Allan Meldgaard Lund, Gunilla Malm, Ans T. Van der Ploeg, Jiri Zeman

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

31

Mucopolysaccharidosis VI: the Italian experience

Maurizio Scarpa, Rita Barone, Agata Fiumara, Luca Astarita, Giancarlo Parenti, Angelica Rampazzo, Stefania Sala, Giovanni Sorge, Rossella Parini

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

32

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

Joseph Muenzer, Olaf Bodamer, Barbara Burton, Lorne Clarke, Gudrun Schulze Frenking, Roberto Giugliani, Simon Jones, Maria Verónica Muñoz Rojas, Maurizio Scarpa, Michael Beck, Paul Harmatz

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

33

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

Paul Harmatz, Zi-Fan Yu, Roberto Giugliani, Ida Vanessa D. Schwartz, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda, J. Edmond Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteri

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 239 KB

english, 2010

34

Pathophysiology of neuropathic lysosomal storage disorders

Cinzia Maria Bellettato, Maurizio Scarpa

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 412 KB

english, 2010

35

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

Elizabeth A. Braunlin, Paul R. Harmatz, Maurizio Scarpa, Beatriz Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 595 KB

english, 2011

36

Monte Carlo simulation of resonant phonon THz quantum cascade lasers

Christian Jirauschek, Giuseppe Scarpa, Paolo Lugli, Maurizio Manenti

Journal:

Journal of Computational Electronics

Year:

2007

Language:

english

File:

PDF, 278 KB

english, 2007

37

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases

Maurizio Scarpa, Adriana Ceci, Rosella Tomanin, Pierpaolo Mincarone, David Begley

Journal:

The EPMA Journal

Year:

2011

Language:

english

File:

PDF, 366 KB

english, 2011

38

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

Maurizio Scarpa

Journal:

The EPMA Journal

Year:

2011

Language:

english

File:

PDF, 124 KB

english, 2011

39

Large-scale feasibility of gene transduction into human CD34+ cell-derived dendritic cells by adenoviral/polycation complex

Massimo Di Nicola, Carmelo Carlo-Stella, Marco Milanesi, Michele Magni, Paolo Longoni, Roberta Mortarini, Andrea Anichini, Rosella Tomanin, Maurizio Scarpa, A. Massimo Gianni

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 197 KB

english, 2000

40

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

Zanetti, Alessandra, Ferraresi, Elena, Picci, Luigi, Filocamo, Mirella, Parini, Rossella, Rosano, Camillo, Tomanin, Rosella, Scarpa, Maurizio

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

41

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

Paola Di Natale, Guglielmo R. D. Villani, Rossella Parini, Maurizio Scarpa, Giancarlo Parenti, Gianfranco Pontarelli, Michela Grosso, Giovanna Sersale, Rosella Tomanin, Michelina Sibilio, Rita Barone,

Journal:

Biotechnology and Applied Biochemistry

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

42

Peripheral giant cell granuloma: Evidence for osteoclastic differentiation

Franco Bonetti, Giuseppe Pelosi, Guido Martignoni, Aldo Mombello, Giuseppe Zamboni, Maurizio Pea, Aldo Scarpa, Marco Chilosi

Journal:

Oral Surgery, Oral Medicine, Oral Pathology

Year:

1990

Language:

english

File:

PDF, 2.31 MB

english, 1990

43

In vitro and in vivo gene transfer to pulmonary cells mediated by cationic liposomes

Elisabetta Fortunati, Abraham Bout, Maria Antonia Zanta, Dinko Valerio, Maurizio Scarpa

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1996

Language:

english

File:

PDF, 872 KB

english, 1996

44

Airways engraftment of human amniotic fluid stem cells after intratracheal administration in a rat model of BPD

Davide Grisafi, Arben Dedja, Roberto Salmaso, Martina Piccoli, Valentina Vanzo⁎, Anna Milan, Rosella Tomanin, Ambrogio Fassina, Maurizio Scarpa, Lino Chiandetti, Michela Pozzobon, Paolo De Coppi, Paol

Journal:

Early Human Development

Year:

2008

Language:

english

File:

PDF, 96 KB

english, 2008

45

Are frozen sections useful and cost-effective in the era of intraoperative qPTH assays?

Maurizio Iacobone, Marco Scarpa, Franco Lumachi, Gennaro Favia

Journal:

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

46

Polyethylenimine shows properties of interest for cystic fibrosis gene therapy

Stefano Ferrari, Andrea Pettenazzo, Nicoletta Garbati, Franco Zacchello, Jean-Paul Behr, Maurizio Scarpa

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1999

Language:

english

File:

PDF, 342 KB

english, 1999

47

Lysosomal storage diseases: new challenges

Maurizio Scarpa, Yoshikatsu Eto

Journal:

Acta Paediatrica

Year:

2008

Language:

english

File:

PDF, 434 KB

english, 2008

48

Seventh International Symposium on Lysosomal Storage Diseases

Johannes Aerts, Michael Beck, Rick Martin, Maurizio Scarpa

Journal:

Acta Paediatrica

Year:

2008

Language:

english

File:

PDF, 439 KB

english, 2008

49

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

Rosella Tomanin, Alessandra Zanetti, Eva Zaccariotto, Francesca D’Avanzo, Cinzia M Bellettato, Maurizio Scarpa

Journal:

Acta Paediatrica

Year:

2012

Language:

english

File:

PDF, 300 KB

english, 2012

50

Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy – a review

C Gail Summers, Kristina T Fahnehjelm, Susanne Pitz, Nathalie Guffon, Selim T Koseoglu, Paul Harmatz, Maurizio Scarpa

Journal:

Clinical & Experimental Ophthalmology

Year:

2010

Language:

english

File:

PDF, 493 KB

english, 2010