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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
By:
- Parenti, Giancarlo;
- Fecarotta, Simona;
- Alagia, Marianna;
- Attaianese, Federica;
- Verde, Alessandra;
- Tarallo, Antonietta;
- Gragnaniello, Vincenza;
- Ziagaki, Athanasia;
- Guimaraes, Maria Jose';
- Aguiar, Patricio;
- Hahn, Andreas;
- Azevedo, Olga;
- Donati, Maria Alice;
- Kiec-Wilk, Beata;
- Scarpa, Maurizio;
- van der Beek, Nadine A. M. E.;
- Del Toro Riera, Mireja;
- Germain, Dominique P.;
- Huidekoper, Hidde;
- van den Hout, Johanna M. P.
Publication type:
Article
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.
Published in:
Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.863667
By:
- Wiesinger, Anna-Maria;
- Bigger, Brian;
- Giugliani, Roberto;
- Scarpa, Maurizio;
- Moser, Tobias;
- Lampe, Christina;
- Kampmann, Christoph;
- Lagler, Florian B.
Publication type:
Article
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Published in:
Molecular Human Reproduction, 2005, v. 11, n. 8, p. 607, doi. 10.1093/molehr/gah214
By:
- Morea, Antonella;
- Cameran, Marilena;
- Rebuffi, Anna Grazia;
- Marzenta, Diana;
- Marangon, Oriana;
- Picci, Luigi;
- Zacchello, Franco;
- Scarpa, Maurizio
Publication type:
Article
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
Published in:
2012
By:
- Muenzer J;
- Bodamer O;
- Burton B;
- Clarke L;
- Frenking GS;
- Giugliani R;
- Jones S;
- Rojas MV;
- Scarpa M;
- Beck M;
- Harmatz P;
- Muenzer, Joseph;
- Bodamer, Olaf;
- Burton, Barbara;
- Clarke, Lorne;
- Frenking, Gudrun Schulze;
- Giugliani, Roberto;
- Jones, Simon;
- Rojas, Maria Verónica Muñoz;
- Scarpa, Maurizio
Publication type:
journal article
Mucopolysaccharidosis VI: the Italian experience.
Published in:
2009
By:
- Scarpa, Maurizio;
- Barone, Rita;
- Fiumara, Agata;
- Astarita, Luca;
- Parenti, Giancarlo;
- Rampazzo, Angelica;
- Sala, Stefania;
- Sorge, Giovanni;
- Parini, Rossella
Publication type:
journal article
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Published in:
2008
By:
- Wraith, J. Edmond;
- Scarpa, Maurizio;
- Beck, Michael;
- Bodamer, Olaf A.;
- De Meirleir, Linda;
- Guffon, Nathalie;
- Lund, Allan Meldgaard;
- Malm, Gunilla;
- Van der Ploeg, Ans T.;
- Zeman, Jiri;
- Meldgaard Lund, Allan
Publication type:
journal article
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15 , 1565.
Published in:
2023
By:
- Wiesinger, Anna-Maria;
- Bigger, Brian;
- Giugliani, Roberto;
- Lampe, Christina;
- Scarpa, Maurizio;
- Moser, Tobias;
- Kampmann, Christoph;
- Zimmermann, Georg;
- Lagler, Florian B.
Publication type:
Correction Notice
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis.
Published in:
Pharmaceutics, 2023, v. 15, n. 5, p. 1565, doi. 10.3390/pharmaceutics15051565
By:
- Wiesinger, Anna-Maria;
- Bigger, Brian;
- Giugliani, Roberto;
- Lampe, Christina;
- Scarpa, Maurizio;
- Moser, Tobias;
- Kampmann, Christoph;
- Zimmermann, Georg;
- Lagler, Florian B.
Publication type:
Article
Open issues in Mucopolysaccharidosis type I-Hurler.
Published in:
2017
By:
- Parini, Rossella;
- Deodato, Federica;
- Di Rocco, Maja;
- Lanino, Edoardo;
- Locatelli, Franco;
- Messina, Chiara;
- Rovelli, Attilio;
- Scarpa, Maurizio
Publication type:
journal article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Published in:
2017
By:
- Muenzer, Joseph;
- Jones, Simon A.;
- Tylki-Szymańska, Anna;
- Harmatz, Paul;
- Mendelsohn, Nancy J.;
- Guffon, Nathalie;
- Giugliani, Roberto;
- Burton, Barbara K.;
- Scarpa, Maurizio;
- Beck, Michael;
- Jangelind, Yvonne;
- Hernberg-Stahl, Elizabeth;
- Paabøl Larsen, Maria;
- Pulles, Tom;
- Whiteman, David A. H.;
- Larsen, Maria Paabøl
Publication type:
journal article
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1
By:
- Tomanin, Rosella;
- Zanetti, Alessandra;
- D'Avanzo, Francesca;
- Rampazzo, Angelica;
- Gasparotto, Nicoletta;
- Parini, Rossella;
- Pascarella, Antonia;
- Concolino, Daniela;
- Procopio, Elena;
- Fiumara, Agata;
- Borgo, Andrea;
- Frigo, Anna Chiara;
- Scarpa, Maurizio
Publication type:
Article
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
Published in:
2014
By:
- Tomanin, Rosella;
- Zanetti, Alessandra;
- D'Avanzo, Francesca;
- Rampazzo, Angelica;
- Gasparotto, Nicoletta;
- Parini, Rossella;
- Pascarella, Antonia;
- Concolino, Daniela;
- Procopio, Elena;
- Fiumara, Agata;
- Borgo, Andrea;
- Frigo, Anna Chiara;
- Scarpa, Maurizio
Publication type:
journal article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-155
By:
- Langereis, Eveline J.;
- Borgo, Andrea;
- Crushell, Ellen;
- Harmatz, Paul R.;
- van Hasselt, Peter M.;
- Jones, Simon A.;
- Kelly, Paula M.;
- Lampe, Christina;
- van der Lee, Johanna H.;
- Odent, Thierry;
- Sakkers, Ralph;
- Scarpa, Maurizio;
- Schafroth, Matthias U.;
- Struijs, Peter A.;
- Valayannopoulos, Vassili;
- White, Klane K.;
- Wijburg, Frits A.
Publication type:
Article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Published in:
2013
By:
- Langereis, Eveline J;
- Borgo, Andrea;
- Crushell, Ellen;
- Harmatz, Paul R;
- van Hasselt, Peter M;
- Jones, Simon A;
- Kelly, Paula M;
- Lampe, Christina;
- van der Lee, Johanna H;
- Odent, Thierry;
- Sakkers, Ralph;
- Scarpa, Maurizio;
- Schafroth, Matthias U;
- Struijs, Peter A;
- Valayannopoulos, Vassili;
- White, Klane K;
- Wijburg, Frits A
Publication type:
journal article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
Published in:
2012
By:
- de Ru, Minke H;
- Teunissen, Quirine Ga;
- van der Lee, Johanna H;
- Beck, Michael;
- Bodamer, Olaf A;
- Clarke, Lorne A;
- Hollak, Carla E;
- Lin, Shuan-Pei;
- Rojas, Maria-Verónica Muñoz;
- Pastores, Gregory M;
- Raiman, Julian A;
- Scarpa, Maurizio;
- Treacy, Eileen P;
- Tylki-Szymanska, Anna;
- Wraith, J Edmond;
- Zeman, Jiri;
- Wijburg, Frits A
Publication type:
journal article
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Published in:
2011
By:
- Scarpa, Maurizio;
- Almássy, Zsuzsanna;
- Beck, Michael;
- Bodamer, Olaf;
- Bruce, Iain A;
- De Meirleir, Linda;
- Guffon, Nathalie;
- Guillén-Navarro, Encarna;
- Hensman, Pauline;
- Jones, Simon;
- Kamin, Wolfgang;
- Kampmann, Christoph;
- Lampe, Christina;
- Lavery, Christine A;
- Leao Teles, Elisa;
- Link, Bianca;
- Lund, Allan M;
- Malm, Gunilla;
- Pitz, Susanne;
- Rothera, Michael
Publication type:
journal article
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12870, doi. 10.3390/ijms222312870
By:
- Pinto, Carolina;
- Sousa, Diana;
- Ghilas, Vladimir;
- Dardis, Andrea;
- Scarpa, Maurizio;
- Macedo, Maria Fatima
Publication type:
Article
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5538, doi. 10.3390/ijms22115538
By:
- Zampieri, Stefania;
- Cattarossi, Silvia;
- Pavan, Eleonora;
- Barbato, Antonio;
- Fiumara, Agata;
- Peruzzo, Paolo;
- Scarpa, Maurizio;
- Ciana, Giovanni;
- Dardis, Andrea
Publication type:
Article
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2014, doi. 10.3390/ijms20082014
By:
- Rigon, Laura;
- Salvalaio, Marika;
- Pederzoli, Francesca;
- Legnini, Elisa;
- Duskey, Jason Thomas;
- D'Avanzo, Francesca;
- De Filippis, Concetta;
- Ruozi, Barbara;
- Marin, Oriano;
- Vandelli, Maria Angela;
- Ottonelli, Ilaria;
- Scarpa, Maurizio;
- Tosi, Giovanni;
- Tomanin, Rosella
Publication type:
Article
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II MouseModel.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 1072, doi. 10.3390/ijms18051072
By:
- Salvalaio, Marika;
- D’Avanzo, Francesca;
- Rigon, Laura;
- Zanetti, Alessandra;
- D’Angelo, Michela;
- Valle, Giorgio;
- Scarpa, Maurizio;
- Tomanin, Rosella
Publication type:
Article
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Published in:
2019
By:
- Zanetti, Alessandra;
- D'Avanzo, Francesca;
- Rigon, Laura;
- Rampazzo, Angelica;
- Concolino, Daniela;
- Barone, Rita;
- Volpi, Nicola;
- Santoro, Lucia;
- Lualdi, Susanna;
- Bertola, Francesca;
- Scarpa, Maurizio;
- Tomanin, Rosella
Publication type:
journal article
The ethical framework for performing research with rare inherited neurometabolic disease patients.
Published in:
2017
By:
- Giannuzzi, Viviana;
- Devlieger, Hugo;
- Margari, Lucia;
- Odlind, Viveca;
- Ragab, Lamis;
- Bellettato, Cinzia;
- D'Avanzo, Francesca;
- Lampe, Christina;
- Cassis, Linda;
- Cortès-Saladelafont, Elisenda;
- Cazorla, Ángels;
- Barić, Ivo;
- Cvitanović-Šojat, Ljerka;
- Fumić, Ksenija;
- Dali, Christine;
- Bartoloni, Franco;
- Bonifazi, Fedele;
- Scarpa, Maurizio;
- Ceci, Adriana;
- Odlind, Viveca Lena
Publication type:
journal article
Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia.
Published in:
Pediatric Pulmonology, 2013, v. 48, n. 11, p. 1070, doi. 10.1002/ppul.22791
By:
- Grisafi, Davide;
- Pozzobon, Michela;
- Dedja, Arben;
- Vanzo, Valentina;
- Tomanin, Rosella;
- Porzionato, Andrea;
- Macchi, Veronica;
- Salmaso, Roberto;
- Scarpa, Maurizio;
- Cozzi, Emanuele;
- Fassina, Ambrogio;
- Navaglia, Filippo;
- Maran, Claudio;
- Onisto, Maurizio;
- Caenazzo, Luciana;
- De Coppi, Paolo;
- De Caro, Raffaele;
- Chiandetti, Lino;
- Zaramella, Patrizia
Publication type:
Article
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Published in:
Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1529, doi. 10.1007/s11011-017-0044-y
By:
- Deodato, Federica;
- Procopio, Elena;
- Rampazzo, Angelica;
- Taurisano, Roberta;
- Donati, Maria;
- Dionisi-Vici, Carlo;
- Caciotti, Anna;
- Morrone, Amelia;
- Scarpa, Maurizio
Publication type:
Article
Research activity and capability in the European reference network MetabERN.
Published in:
2019
By:
- Heard, Jean-Michel;
- Bellettato, Cinzia;
- van Lingen, Corine;
- Scarpa, Maurizio;
- MetabERN collaboration group
Publication type:
journal article
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Published in:
2017
By:
- Muenzer, Joseph;
- Giugliani, Roberto;
- Scarpa, Maurizio;
- Tylki-Szymańska, Anna;
- Jego, Virginie;
- Beck, Michael
Publication type:
journal article
Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 961, doi. 10.1111/j.1469-8749.2012.04228.x
By:
- BONANNI, PAOLO;
- GUBERNALE, MARCO;
- MARTINEZ, FEDERICA;
- RANDAZZO, GIOVANNA;
- MILANTONI, LUCA;
- MARTINUZZI, ANDREA;
- BONIVER, CLEMENTINA;
- VECCHI, MARILENA;
- SCARPA, MAURIZIO
Publication type:
Article
Gene therapy: A new approach for the treatment of genetic disorders.
Published in:
Clinical Pharmacology & Therapeutics, 1990, v. 47, n. 1, p. 1, doi. 10.1038/clpt.1990.1
By:
- Cournoyer, Denis;
- Scarpa, Maurizio;
- Jones, Stephen N;
- Moore, Kateri A;
- Belmont, John W;
- Caskey, C Thomas
Publication type:
Article
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Published in:
International Journal of Environmental Research & Public Health, 2023, v. 20, n. 6, p. 4732, doi. 10.3390/ijerph20064732
By:
- Adachi, Takeya;
- El-Hattab, Ayman W.;
- Jain, Ritu;
- Nogales Crespo, Katya A.;
- Quirland Lazo, Camila I.;
- Scarpa, Maurizio;
- Summar, Marshall;
- Wattanasirichaigoon, Duangrurdee
Publication type:
Article
Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD).
Published in:
European Journal of Health Economics, 2024, v. 25, n. 8, p. 1437, doi. 10.1007/s10198-023-01667-7
By:
- Matza, Louis S.;
- Stewart, Katie D.;
- Fournier, Marie;
- Rowen, Donna;
- Lachmann, Robin;
- Scarpa, Maurizio;
- Mengel, Eugen;
- Obermeyer, Travis;
- Ayik, Evren;
- Laredo, Fernando;
- Pulikottil-Jacob, Ruth
Publication type:
Article
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158"
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4017, doi. 10.3390/jcm12124017
By:
- Hughes, Derralynn A.;
- Deegan, Patrick;
- Giraldo, Pilar;
- Göker-Alpan, Özlem;
- Lau, Heather;
- Lukina, Elena;
- Revel-Vilk, Shoshana;
- Scarpa, Maurizio;
- Botha, Jaco;
- Gadir, Noga;
- Zimran, Ari
Publication type:
Article
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5158, doi. 10.3390/jcm11175158
By:
- Hughes, Derralynn A.;
- Deegan, Patrick;
- Giraldo, Pilar;
- Göker-Alpan, Özlem;
- Lau, Heather;
- Lukina, Elena;
- Revel-Vilk, Shoshana;
- Scarpa, Maurizio;
- Botha, Jaco;
- Gadir, Noga;
- Zimran, Ari
Publication type:
Article
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD).
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4796, doi. 10.3390/jcm10204796
By:
- Dardis, Andrea;
- Pavan, Eleonora;
- Fabris, Martina;
- Da Riol, Rosalia Maria;
- Sechi, Annalisa;
- Fiumara, Agata;
- Santoro, Lucia;
- Ormazabal, Maximiliano;
- Milanic, Romina;
- Zampieri, Stefania;
- Biasizzo, Jessica;
- Scarpa, Maurizio
Publication type:
Article
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 532, doi. 10.3390/biom13030532
By:
- D'Avanzo, Francesca;
- Zanetti, Alessandra;
- Dardis, Andrea;
- Scarpa, Maurizio;
- Volpi, Nicola;
- Gatto, Francesco;
- Tomanin, Rosella
Publication type:
Article
Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1160, doi. 10.1038/ejhg.2009.19
By:
- Zanetti, Alessandra;
- Ferraresi, Elena;
- Picci, Luigi;
- Filocamo, Mirella;
- Parini, Rossella;
- Rosano, Camillo;
- Tomanin, Rosella;
- Scarpa, Maurizio
Publication type:
Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
By:
- Wasserstein, Melissa P.;
- Lachmann, Robin;
- Hollak, Carla;
- Barbato, Antonio;
- Gallagher, Renata C.;
- Giugliani, Roberto;
- Guelbert, Norberto Bernardo;
- Hennermann, Julia B.;
- Ikezoe, Takayuki;
- Lidove, Olivier;
- Mabe, Paulina;
- Mengel, Eugen;
- Scarpa, Maurizio;
- Senates, Ebubekir;
- Tchan, Michel;
- Villarrubia, Jesus;
- Thurberg, Beth L.;
- Yarramaneni, Abhimanyu;
- Armstrong, Nicole M.;
- Kim, Yong
Publication type:
Article
Together4RD position statement on collaboration between European reference networks and industry.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02853-9
By:
- Hedley, Victoria;
- Bolz-Johnson, Matt;
- Hernando, Ines;
- Kenward, Rosalind;
- Nabbout, Rima;
- Romero, Clara;
- Schaefer, Franz;
- Upadhyaya, Sheela;
- Arzimanoglou, Alexis;
- Dollfus, Hélène;
- Leroux, Dorothée;
- Scarpa, Maurizio;
- Verloes, Alain;
- Daria Julkowska;
- Rath, Ana;
- Ussi, Anton;
- Mimouni, Yanis;
- Cuisenier, Morgane;
- Chalandon, Anne-Sophie;
- Digneffe, Toon
Publication type:
Article
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02650-4
By:
- Nabbout, Rima;
- Zanello, Galliano;
- Baker, Dixie;
- Black, Lora;
- Brambilla, Isabella;
- Buske, Orion J.;
- Conklin, Laurie S.;
- Davies, Elin Haf;
- Julkowska, Daria;
- Kim, Yeonju;
- Klopstock, Thomas;
- Nakamura, Harumasa;
- Nielsen, Kim G.;
- Pariser, Anne R.;
- Pastor, Jose Carlos;
- Scarpa, Maurizio;
- Smith, Maureen;
- Taruscio, Domenica;
- Groft, Stephen
Publication type:
Article
Immunologic privilege in the central nervous system and the blood-brain barrier.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 1, p. 13, doi. 10.1038/jcbfm.2012.153
By:
- Muldoon, Leslie L;
- Alvarez, Jorge I;
- Begley, David J;
- Boado, Ruben J;
- del Zoppo, Gregory J;
- Doolittle, Nancy D;
- Engelhardt, Britta;
- Hallenbeck, John M;
- Lonser, Russell R;
- Ohlfest, John R;
- Prat, Alexandre;
- Scarpa, Maurizio;
- Smeyne, Richard J;
- Drewes, Lester R;
- Neuwelt, Edward A
Publication type:
Article
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Published in:
BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-37
By:
- Mazzoccoli, Gianluigi;
- Tomanin, Rosella;
- Mazza, Tommaso;
- D'Avanzo, Francesca;
- Salvalaio, Marika;
- Rigon, Laura;
- Zanetti, Alessandra;
- Pazienza, Valerio;
- Francavilla, Massimo;
- Giuliani, Francesco;
- Vinciguerra, Manlio;
- Scarpa, Maurizio
Publication type:
Article
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Published in:
2023
By:
- Diaz, George A.;
- Giugliani, Roberto;
- Gufon, Nathalie;
- Jones, Simon A.;
- Mengel, Eugen;
- Scarpa, Maurizio;
- Witters, Peter;
- Yarramaneni, Abhimanyu;
- Li, Jing;
- Armstrong, Nicole M.;
- Kim, Yong;
- Ortemann-Renon, Catherine;
- Kumar, Monica
Publication type:
Correction Notice
Rare disease education in Europe and beyond: time to act.
Published in:
Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02527-y
By:
- Tumiene, Birute;
- Peters, Harm;
- Melegh, Bela;
- Peterlin, Borut;
- Utkus, Algirdas;
- Fatkulina, Natalja;
- Pfliegler, György;
- Graessner, Holm;
- Hermanns, Sanja;
- Scarpa, Maurizio;
- Blay, Jean-Yves;
- Ashton, Sharon;
- McKay, Lucy;
- Baynam, Gareth
Publication type:
Article
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Published in:
Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02587-0
By:
- Diaz, George A.;
- Giugliani, Roberto;
- Guffon, Nathalie;
- Jones, Simon A.;
- Mengel, Eugen;
- Scarpa, Maurizio;
- Witters, Peter;
- Yarramaneni, Abhimanyu;
- Li, Jing;
- Armstrong, Nicole M.;
- Kim, Yong;
- Ortemann-Renon, Catherine;
- Kumar, Monica
Publication type:
Article
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Published in:
2022
By:
- Sestito, Simona;
- Rinninella, Giada;
- Rampazzo, Angelica;
- D'Avanzo, Francesca;
- Zampini, Lucia;
- Santoro, Lucia;
- Gabrielli, Orazio;
- Fiumara, Agata;
- Barone, Rita;
- Volpi, Nicola;
- Scarpa, Maurizio;
- Tomanin, Rosella;
- Concolino, Daniela
Publication type:
journal article
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN.
Published in:
2022
By:
- Paneghetti, Laura;
- Bellettato, Cinzia Maria;
- Sechi, Annalisa;
- Stepien, Karolina M.;
- Scarpa, Maurizio
Publication type:
journal article
Social and medical needs of rare metabolic patients: results from a MetabERN survey.
Published in:
2021
By:
- Sestini, Sylvia;
- Paneghetti, Laura;
- Lampe, Christina;
- Betti, Gianni;
- Bond, Simon;
- Bellettato, Cinzia Maria;
- Maurizio, Scarpa
Publication type:
journal article
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
Published in:
Biotechnology & Applied Biochemistry, 2008, v. 049, n. 3, p. 219
By:
- 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;
- Agata Fiumara
Publication type:
Article
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Published in:
2021
By:
- Mole, Sara E.;
- Schulz, Angela;
- Badoe, Eben;
- Berkovic, Samuel F.;
- de Los Reyes, Emily C.;
- Dulz, Simon;
- Gissen, Paul;
- Guelbert, Norberto;
- Lourenco, Charles M.;
- Mason, Heather L.;
- Mink, Jonathan W.;
- Murphy, Noreen;
- Nickel, Miriam;
- Olaya, Joffre E.;
- Scarpa, Maurizio;
- Scheffer, Ingrid E.;
- Simonati, Alessandro;
- Specchio, Nicola;
- Von Löbbecke, Ina;
- Wang, Raymond Y.
Publication type:
journal article
U-IMD: the first Unified European registry for inherited metabolic diseases.
Published in:
2021
By:
- Opladen, Thomas;
- Gleich, Florian;
- Kozich, Viktor;
- Scarpa, Maurizio;
- Martinelli, Diego;
- Schaefer, Franz;
- Jeltsch, Kathrin;
- Juliá-Palacios, Natalia;
- García-Cazorla, Ángels;
- Dionisi-Vici, Carlo;
- Kölker, Stefan
Publication type:
journal article
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?
Published in:
2020
By:
- Di Rocco, Maja;
- Di Fonzo, Alessio;
- Barbato, Antonio;
- Cappellini, Maria Domenica;
- Carubbi, Francesca;
- Giona, Fiorina;
- Giuffrida, Gaetano;
- Linari, Silvia;
- Pession, Andrea;
- Quarta, Antonella;
- Scarpa, Maurizio;
- Spada, Marco;
- Strisciuglio, Pietro;
- Andria, Generoso
Publication type:
journal article

Found: 88