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

por Scarpa, Maurizio
Publicado 2011

Possible strategies to cross the blood–brain barrier

por Bellettato, Cinzia M., Scarpa, Maurizio
Publicado 2018

Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease

por Bon, Martina, Dardis, Andrea, Scarpa, Maurizio, Sechi, Annalisa
Publicado 2023

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

por Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Scarpa, Maurizio
Publicado 2020

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

por Scarpa, Maurizio, Ceci, Adriana, Tomanin, Rosella, Mincarone, Pierpaolo, Begley, David
Publicado 2011

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

por Bodamer, Olaf, Scarpa, Maurizio, Hung, Christina, Pulles, Tom, Giugliani, Roberto
Publicado 2017

Research activity and capability in the European reference network MetabERN

por Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio
Publicado 2019

The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses

por Congedi, Sabrina, Di Pede, Chiara, Scarpa, Maurizio, Rampazzo, Angelica, Benini, Franca
Publicado 2017

Seronegative Arthritis and Whipple Disease: Risk of Misdiagnosis in the Era of Biologic Agents

por Quartuccio, Luca, Giovannini, Ivan, Pizzolitto, Stefano, Scarpa, Maurizio, De Vita, Salvatore
Publicado 2019

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

por Paneghetti, Laura, Bellettato, Cinzia Maria, Sechi, Annalisa, Stepien, Karolina M., Scarpa, Maurizio
Publicado 2022

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

por Muenzer, Joseph, Giugliani, Roberto, Scarpa, Maurizio, Tylki-Szymańska, Anna, Jego, Virginie, Beck, Michael
Publicado 2017

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

por Pinto, Carolina, Sousa, Diana, Ghilas, Vladimir, Dardis, Andrea, Scarpa, Maurizio, Macedo, Maria Fatima
Publicado 2021

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

por Sechi, Annalisa, Vit, Alessandro, Avellini, Claudio, Dardis, Andrea, Pellegrin, Andrea, Scarpa, Maurizio, Bembi, Bruno
Publicado 2021

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

por D’Avanzo, Francesca, Zanetti, Alessandra, Dardis, Andrea, Scarpa, Maurizio, Volpi, Nicola, Gatto, Francesco, Tomanin, Rosella
Publicado 2023

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

por Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio
Publicado 2020

Open issues in Mucopolysaccharidosis type I-Hurler

por Parini, Rossella, Deodato, Federica, Di Rocco, Maja, Lanino, Edoardo, Locatelli, Franco, Messina, Chiara, Rovelli, Attilio, Scarpa, Maurizio
Publicado 2017

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

por Salvalaio, Marika, D’Avanzo, Francesca, Rigon, Laura, Zanetti, Alessandra, D’Angelo, Michela, Valle, Giorgio, Scarpa, Maurizio, Tomanin, Rosella
Publicado 2017

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

por Zampieri, Stefania, Cattarossi, Silvia, Pavan, Eleonora, Barbato, Antonio, Fiumara, Agata, Peruzzo, Paolo, Scarpa, Maurizio, Ciana, Giovanni, Dardis, Andrea
Publicado 2021

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy

por Wiesinger, Anna-Maria, Bigger, Brian, Giugliani, Roberto, Scarpa, Maurizio, Moser, Tobias, Lampe, Christina, Kampmann, Christoph, Lagler, Florian B.
Publicado 2022

RETRACTED: An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis

por Wiesinger, Anna-Maria, Bigger, Brian, Giugliani, Roberto, Lampe, Christina, Scarpa, Maurizio, Moser, Tobias, Kampmann, Christoph, Zimmermann, Georg, Lagler, Florian B.
Publicado 2023