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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: camilot m. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Cavarzere P, Vincenzi M, Gaudino R, Franceschi R, Perlini S, Camilot M, Teofoli F, Antoniazzi F, Tatò L. Cavarzere P, et al. Among authors: camilot m. Fertil Steril. 2010 Nov;94(6):2350-2. doi: 10.1016/j.fertnstert.2010.04.040. Epub 2010 May 26. Fertil Steril. 2010. PMID: 20537623 Free article.
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M. Popa FI, et al. Among authors: camilot m. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430856 Free PMC article.
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F. Vincenzi M, et al. Among authors: camilot m. BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69. BMC Endocr Disord. 2014. PMID: 25146893 Free PMC article.
42 results