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Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe DiseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Orphanet Journal of Rare Diseases|September 24, 2020
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 11, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe diseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22Daniela Melis, Rita Genesio, Gerarda Cappuccio, et al.
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
Human Mutation|October 29, 2009
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidaseJohn J Flanagan, Barbara Rossi, Katherine Tang, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Giornale Italiano Di Cardiologia (2006)|August 29, 2017
[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]Pierluigi Russo, Generoso Andria, Alessandra Baldinelli, et al.
Journal of Public Health (Oxford, England)|May 13, 2021
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease RegistryGiuseppe Limongelli, Stefano Iucolano, Emanuele Monda, et al.
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