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Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
De Giorgis V, Tagliabue A, Bisulli F, Brambilla I, Camerini A, Cusmai R, Darra F, Dianin A, Domenica E, Lodi MAM, Matricardi S, Messana T, Operto F, Ragona F, Russo E, Varesio C, Volpi L, Zanaboni MP, Pasca L, Veggiotti P. De Giorgis V, et al. Among authors: dianin a. Front Neurol. 2023 Jul 10;14:1215618. doi: 10.3389/fneur.2023.1215618. eCollection 2023. Front Neurol. 2023. PMID: 37497012 Free PMC article.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: dianin a. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A, Rodella G, Dianin A, Monge I, Messina M, Rigotti E, Pellegrini F, Molinaro G, Lupi F, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: dianin a. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 Free PMC article.
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, Cantalupo G, Salviati L, Tucci S, Pellegrini F, Molinaro G, Lupi F, Tonin P, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: dianin a. Mol Genet Metab Rep. 2020 Aug 5;24:100632. doi: 10.1016/j.ymgmr.2020.100632. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32793418 Free PMC article.
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: dianin 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.
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