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Page 1
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. 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. 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.
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. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
The treatment of obesity in children and adolescents: consensus position statement of the Italian society of pediatric endocrinology and diabetology, Italian Society of Pediatrics and Italian Society of Pediatric Surgery.
Maffeis C, Olivieri F, Valerio G, Verduci E, Licenziati MR, Calcaterra V, Pelizzo G, Salerno M, Staiano A, Bernasconi S, Buganza R, Crinò A, Corciulo N, Corica D, Destro F, Di Bonito P, Di Pietro M, Di Sessa A, deSanctis L, Faienza MF, Filannino G, Fintini D, Fornari E, Franceschi R, Franco F, Franzese A, Giusti LF, Grugni G, Iafusco D, Iughetti L, Lera R, Limauro R, Maguolo A, Mancioppi V, Manco M, Del Giudice EM, Morandi A, Moro B, Mozzillo E, Rabbone I, Peverelli P, Predieri B, Purromuto S, Stagi S, Street ME, Tanas R, Tornese G, Umano GR, Wasniewska M. Maffeis C, et al. Among authors: maguolo a. Ital J Pediatr. 2023 Jun 8;49(1):69. doi: 10.1186/s13052-023-01458-z. Ital J Pediatr. 2023. PMID: 37291604 Free PMC article. Review.
24 results