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Current Pharmaceutical Biotechnology|January 18, 2011
Pompe disease: from new views on pathophysiology to innovative therapeutic strategiesGiancarlo Parenti, Generoso Andria
Annual Review of Medicine|January 15, 2015
Lysosomal storage diseases: from pathophysiology to therapyGiancarlo Parenti, Generoso Andria, Andrea Ballabio
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|October 3, 2012
Universal screening for inherited metabolic diseases in the neonate (and the fetus)Iris Scala, Giancarlo Parenti, Generoso Andria
Human Mutation|September 4, 2007
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 geneMaria Pia Sperandeo, Generoso Andria, Gianfranco Sebastio
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 11, 2011
Lysinuric protein intolerance: reviewing concepts on a multisystem diseaseGianfranco Sebastio, Maria P Sperandeo, Generoso Andria
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 17, 2015
Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage DisordersGiancarlo Parenti, Generoso Andria, Kenneth J Valenzano
Annals of Neurology|September 5, 2002
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type VEnnio Toscano, Alessandro Simonati, Yasuhiro Indo, et al.
Molecular Genetics and Metabolism|August 8, 2013
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic toolVito Iacobazzi, Alessandra Castegna, Vittoria Infantino, et al.
Molecular Genetics and Metabolism|August 4, 2014
Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issuesVito Iacobazzi, Vittoria Infantino, Alessandra Castegna, et al.
Future Medicinal Chemistry|July 29, 2014
Pharmacological chaperone therapy for lysosomal storage diseasesGiancarlo Parenti, Marco Moracci, Simona Fecarotta, et al.
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