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European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 27, 2017
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patientsLucilla Parnetti, Silvia Paciotti, Paolo Eusebi, et al.
Gene|March 24, 2012
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutationStefania Zampieri, Annalisa Montalvo, Mariana Blanco, et al.
JIMD Reports|September 10, 2019
Clinical and neurophysiological characteristics of heterozygous <i>NPC1</i> carriersAlberto Benussi, Maria S Cotelli, Valentina Cantoni, et al.
Molecular Genetics and Metabolism|May 11, 2020
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experienceAnnalisa Sechi, Daniela Macor, Serena Valent, et al.
Rice (New York, N.Y.)|November 28, 2013
Endosperm-specific expression of human acid beta-glucosidase in a waxy riceTamara Patti, Bruno Bembi, Piero Cristin, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
<i>In vitro</i> and <i>in vivo</i> effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsyGiovanni Ciana, Andrea Dardis, Eleonora Pavan, et al.
American Journal of Medical Genetics. Part A|April 12, 2023
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosisLucia Santoro, Chiara Monachesi, Lucia Zampini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2010
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe diseasePaola de Filippi, Sabrina Ravaglia, Bruno Bembi, et al.
Journal of Inherited Metabolic Disease|April 27, 2026
Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease CorrectionHimanshi Saxena, Rossana Domenis, Giulia Romano, et al.
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