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Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: bartuli a. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Acute pancreatitis in propionic acidaemia.
Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G, Zacchello F. Burlina AB, et al. Among authors: bartuli a. J Inherit Metab Dis. 1995;18(2):169-72. doi: 10.1007/BF00711758. J Inherit Metab Dis. 1995. PMID: 7564238 No abstract available.
Cranial ultrasonography in maple syrup urine disease.
Fariello G, Dionisi-Vici C, Orazi C, Malena S, Bartuli A, Schingo P, Carnevale E, Saponara I, Sabetta G. Fariello G, et al. Among authors: bartuli a. AJNR Am J Neuroradiol. 1996 Feb;17(2):311-5. AJNR Am J Neuroradiol. 1996. PMID: 8938303 Free PMC article.
Carnitine in lactic acidosis.
Dionisi Vici C, Bertini E, Bartuli A, Sabetta G. Dionisi Vici C, et al. Among authors: bartuli a. J Pediatr. 1988 Apr;112(4):678. doi: 10.1016/s0022-3476(88)80202-6. J Pediatr. 1988. PMID: 3351698 No abstract available.
Homozygous familial hypercholesterolaemia.
Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Macchiaiolo M, et al. Among authors: bartuli a. Lancet. 2012 Apr 7;379(9823):1330. doi: 10.1016/S0140-6736(11)61476-1. Epub 2012 Jan 27. Lancet. 2012. PMID: 22285056 No abstract available.
115 results