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Page 1
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: bordugo a. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Allopurinol challenge test in children.
Burlina AB, Ferrari V, Dionisi-Vici C, Bordugo A, Zacchello F, Tuchman M. Burlina AB, et al. Among authors: bordugo a. J Inherit Metab Dis. 1992;15(5):707-12. doi: 10.1007/BF01800010. J Inherit Metab Dis. 1992. PMID: 1434508
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Del Rizzo M, et al. Among authors: bordugo a. Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27. Mol Genet Metab. 2013. PMID: 23414711
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A. Tonin R, et al. Among authors: bordugo a. BBA Clin. 2016 Mar 10;5:114-9. doi: 10.1016/j.bbacli.2016.03.004. eCollection 2016 Jun. BBA Clin. 2016. PMID: 27051597 Free PMC article.
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
Maines E, Gugelmo G, Tadiotto E, Pietrobelli A, Campostrini N, Pasini A, Ion-Popa F, Vincenzi M, Teofoli F, Camilot M, Bordugo A. Maines E, et al. Among authors: bordugo a. Public Health Nutr. 2017 Oct;20(15):2806-2809. doi: 10.1017/S1368980017001628. Epub 2017 Jul 24. Public Health Nutr. 2017. PMID: 28735580 Free PMC article.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. Among authors: bordugo a. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: bordugo a. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
50 results