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Italian Journal of Pediatrics|November 17, 2018
Mucopolysaccharidoses: early diagnostic signs in infants and childrenCinzia Galimberti, Annalisa Madeo, Maja Di Rocco, et al.
Orphanet Journal of Rare Diseases|January 29, 2018
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiencyMaja Di Rocco, Livia Pisciotta, Annalisa Madeo, et al.
Pediatric Neurology|June 19, 2012
Early miglustat therapy in infantile Niemann-Pick disease type CMaja Di Rocco, Andrea Dardis, Annalisa Madeo, et al.
Advances in Therapy|December 18, 2014
Management of bone disease in Gaucher disease type 1: clinical practiceGaetano Giuffrida, Maria Domenica Cappellini, Francesca Carubbi, et al.
European Journal of Human Genetics : EJHG|October 3, 2008
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancementsRenata Bocciardi, Domenico Bordo, Marco Di Duca, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 27, 2004
Genetic disorders affecting white matter in the pediatric ageMaja Di Rocco, Roberta Biancheri, Andrea Rossi, et al.
Blood Cells, Molecules & Diseases|December 3, 2016
The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literatureAnnalisa Madeo, Alberto Garaventa, Angela Rita Sementa, et al.
Arthritis|November 3, 2011
Coxarthritis as the presenting symptom of Gaucher disease type 1Giacomo Brisca, Maja Di Rocco, Paolo Picco, et al.
Blood Cells, Molecules & Diseases|November 3, 2022
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher RegistryMaria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, et al.
Pediatric Blood & Cancer|August 19, 2014
Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithmMaja Di Rocco, Generoso Andria, Federica Deodato, et al.
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