Ausgabe Sonderheft 2/2018
Mucopolysaccharidoses: state of the art
Inhalt (18 Artikel)
Mucopolysaccharidoses: early diagnostic signs in infants and children
Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara
Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses
Miriam Rigoldi, Elena Verrecchia, Raffaele Manna, Maria Teresa Mascia
Newborn screening in mucopolysaccharidoses
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone
Anesthesiological risks in mucopolysaccharidoses
Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini, Simonetta Tesoro
The role of imaging in the skeletal involvement of mucopolysaccharidoses
Vincenzo Spina, Domenico Barbuti, Alberto Gaeta, Stefano Palmucci, Ernesto Soscia, Marco Grimaldi, Antonio Leone, Renzo Manara, Gabriele Polonara
Orthopaedic challenges for mucopolysaccharidoses
Andrea Borgo, Andrea Cossio, Denise Gallone, Francesca Vittoria, Marco Carbone
Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features
Carlo Giussani, Lelio Guida, Francesco Canonico, Erik P. Sganzerla
Ocular features in mucopolysaccharidosis: diagnosis and treatment
Alessandra Del Longo, Elena Piozzi, Fiammetta Schweizer
Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists
Lucia Boffi, Pierluigi Russo, Giuseppe Limongelli
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
Rita Barone, Alessandra Pellico, Annarita Pittalà, Serena Gasperini
Enzyme replacement therapy: efficacy and limitations
Daniela Concolino, Federica Deodato, Rossella Parini
Possible strategies to cross the blood–brain barrier
Cinzia M. Bellettato, Maurizio Scarpa
New treatments for the mucopolysaccharidoses: from pathophysiology to therapy
Simona Fecarotta, Serena Gasperini, Giancarlo Parenti
Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches
Alessandro Fraldi, Marta Serafini, Nicolina Cristina Sorrentino, Bernhard Gentner, Alessandro Aiuti, Maria Ester Bernardo
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini