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Italian Journal of Pediatrics|May 15, 2013
Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapySimona Fecarotta, Serena Ascione, Giuseppe Montefusco, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 19, 2009
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblastsCaterina Porto, Monica Cardone, Federica Fontana, et al.
BMC Medical Genetics|January 30, 2014
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 geneGerarda Cappuccio, Alessandro Rossi, Paolo Fontana, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
Human Mutation|March 19, 2005
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 geneMaria Pia Sperandeo, Patrizia Annunziata, Virginia Ammendola, et al.
Bone|March 1, 2016
Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasisDaniela Melis, Alessandro Rossi, Rosario Pivonello, et al.
The Journal of Pediatrics|August 4, 2004
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intoleranceFrancesca Santamaria, Gianluca Brancaccio, Giancarlo Parenti, et al.
Clinical Dysmorphology|October 1, 2011
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ringDaniela Melis, Rita Genesio, Ennio Del Giudice, et al.
Pathogenetics|December 3, 2008
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblastsMonica Cardone, Caterina Porto, Antonietta Tarallo, et al.
Molecular Genetics and Metabolism|September 8, 2012
Minimal disease activity in Gaucher disease: criteria for definitionMaja Di Rocco, Generoso Andria, Bruno Bembi, et al.
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