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Page 1
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: campostrini n. 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: campostrini n. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 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: campostrini n. 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.
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: campostrini n. 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.
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: campostrini n. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L, Manzini PM, Badar S, Campostrini N, Ferrarini A, Delledonne M, Francisci T, Tassi V, Valfrè A, Dall'omo AM, D'antico S, Girelli D, Roetto A, De Gobbi M. Ferbo L, et al. Among authors: campostrini n. Blood Transfus. 2016 Nov;14(6):531-534. doi: 10.2450/2016.0286-15. Epub 2016 Apr 28. Blood Transfus. 2016. PMID: 27177411 Free PMC article. No abstract available.
Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study.
Martinelli N, Traglia M, Campostrini N, Biino G, Corbella M, Sala C, Busti F, Masciullo C, Manna D, Previtali S, Castagna A, Pistis G, Olivieri O, Toniolo D, Camaschella C, Girelli D. Martinelli N, et al. Among authors: campostrini n. PLoS One. 2012;7(10):e48250. doi: 10.1371/journal.pone.0048250. Epub 2012 Oct 29. PLoS One. 2012. PMID: 23144745 Free PMC article.
Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis.
Bozzini C, Campostrini N, Trombini P, Nemeth E, Castagna A, Tenuti I, Corrocher R, Camaschella C, Ganz T, Olivieri O, Piperno A, Girelli D. Bozzini C, et al. Among authors: campostrini n. Blood Cells Mol Dis. 2008 May-Jun;40(3):347-52. doi: 10.1016/j.bcmd.2007.10.001. Epub 2007 Dec 27. Blood Cells Mol Dis. 2008. PMID: 18164223
59 results