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Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. Among authors: la marca g. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G. Porto C, et al. Among authors: la marca g. J Inherit Metab Dis. 2012 May;35(3):513-20. doi: 10.1007/s10545-011-9424-3. Epub 2011 Dec 21. J Inherit Metab Dis. 2012. PMID: 22187137
Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A. Ferri L, et al. Among authors: la marca g. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I.
Ombrone D, Malvagia S, Funghini S, Giocaliere E, Della Bona ML, Forni G, De Luca A, Villanelli F, Casetta B, Guerrini R, la Marca G. Ombrone D, et al. Among authors: la marca g. Eur J Mass Spectrom (Chichester). 2013;19(6):497-503. doi: 10.1255/ejms.1257. Eur J Mass Spectrom (Chichester). 2013. PMID: 24378468 Clinical Trial.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Parenti G, Fecarotta S, la Marca G, Rossi B, Ascione S, Donati MA, Morandi LO, Ravaglia S, Pichiecchio A, Ombrone D, Sacchini M, Pasanisi MB, De Filippi P, Danesino C, Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G. Parenti G, et al. Among authors: la marca g. Mol Ther. 2014 Nov;22(11):2004-12. doi: 10.1038/mt.2014.138. Epub 2014 Jul 23. Mol Ther. 2014. PMID: 25052852 Free PMC article.
176 results