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Molecular Genetics and Metabolism|September 11, 2012
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiencyTommaso Fasano, Paolo Zanoni, Claudio Rabacchi, et al.Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.Journal of Alzheimer'S Disease : JAD|October 30, 2016
Role of Niemann-Pick Type C Disease Mutations in DementiaChiara Cupidi, Francesca Frangipane, Maura Gallo, et al.Orphanet Journal of Rare Diseases|April 18, 2023
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, et al.Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.Orphanet Journal of Rare Diseases|April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type CTarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
microRNAs as biomarkers in Pompe diseaseAntonietta Tarallo, Annamaria Carissimo, Francesca Gatto, et al.Pageof 10