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Annual Review of Medicine|January 15, 2015
Lysosomal storage diseases: from pathophysiology to therapyGiancarlo Parenti, Generoso Andria, Andrea Ballabio
Current Pharmaceutical Biotechnology|January 18, 2011
Pompe disease: from new views on pathophysiology to innovative therapeutic strategiesGiancarlo Parenti, Generoso Andria
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
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
Future Medicinal Chemistry|July 29, 2014
Pharmacological chaperone therapy for lysosomal storage diseasesGiancarlo Parenti, Marco Moracci, Simona Fecarotta, et al.
EMBO Molecular Medicine|January 18, 2021
The rapidly evolving view of lysosomal storage diseasesGiancarlo Parenti, Diego L Medina, Andrea Ballabio
American Journal of Medical Genetics. Part A|February 5, 2003
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variabilityNicola Brunetti-Pierri, Maria Vittoria Andreucci, Rosaria Tuzzi, et al.
American Journal of Human Genetics|August 22, 2002
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseNicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society|December 3, 2013
Respiratory manifestations in patients with inherited metabolic diseasesFrancesca Santamaria, Silvia Montella, Virginia Mirra, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustatSimona Fecarotta, Michele Amitrano, Alfonso Romano, et al.
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