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JIMD Reports|December 24, 2013
Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian studyAnnalisa Sechi, Laura Deroma, Sabrina Paci, et al.
Molecular Genetics and Metabolism|July 11, 2006
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentationMaja Di Rocco, Ubaldo Caruso, Egill Briem, et al.
Human Mutation|April 3, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. OnlineMichela Donnarumma, Stefano Regis, Barbara Tappino, et al.
Molecular Cytogenetics|November 28, 2013
A rare 3q13.31 microdeletion including GAP43 and LSAMP genesStefania Gimelli, Massimiliano Leoni, Maja Di Rocco, et al.
Orphanet Journal of Rare Diseases|June 17, 2017
Open issues in Mucopolysaccharidosis type I-HurlerRossella Parini, Federica Deodato, Maja Di Rocco, et al.
BMC Neurology|May 14, 2013
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genesAlessandro Di Rocco, Andrea Loggini, Maja Di Rocco, et al.
American Journal of Medical Genetics. Part A|August 5, 2015
New insights into central nervous system involvement in FOP: Case report and review of the literatureMarta Bertamino, Mariasavina Severino, Maria Cristina Schiaffino, et al.
Journal of Medical Genetics|August 28, 2016
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressivaMariasavina Severino, Marta Bertamino, Domenico Tortora, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|October 25, 2011
Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemiaGiuliana Cangemi, Sebastiano Barco, Laura Barbagallo, et al.
Haematologica|July 8, 2008
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher diseaseMaja Di Rocco, Fiorina Giona, Francesca Carubbi, et al.
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