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Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I. De Sanctis L, et al. Among authors: dianzani i. Pediatr Res. 2003 May;53(5):749-55. doi: 10.1203/01.PDR.0000059752.07086.A2. Epub 2003 Mar 5. Pediatr Res. 2003. PMID: 12621129
Cystinuria phenotyping by oral lysine and arginine loading.
de Sanctis L, Bonetti G, Bruno M, De Luca F, Bisceglia L, Palacin M, Dianzani I, Ponzone A. de Sanctis L, et al. Among authors: dianzani i. Clin Nephrol. 2001 Dec;56(6):467-74. Clin Nephrol. 2001. PMID: 11770798
Characterization of phenylketonuria alleles in the Italian population.
Dianzani I, Giannattasio S, de Sanctis L, Alliaudi C, Lattanzio P, Dionisi Vici C, Burlina A, Burroni M, Sebastio G, Carnevale F, et al. Dianzani I, et al. Eur J Hum Genet. 1995;3(5):294-302. doi: 10.1159/000472313. Eur J Hum Genet. 1995. PMID: 8556304
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
de Sanctis L, Alliaudi C, Spada M, Farrugia R, Cerone R, Biasucci G, Meli C, Zammarchi E, Coskun T, Blau N, Ponzone A, Dianzani I. de Sanctis L, et al. Among authors: dianzani i. J Inherit Metab Dis. 2000 Jun;23(4):333-7. doi: 10.1023/a:1005662710891. J Inherit Metab Dis. 2000. PMID: 10896287 No abstract available.
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RG. Ponzone A, et al. Among authors: dianzani i. Pediatr Res. 1991 Nov;30(5):435-8. doi: 10.1203/00006450-199111000-00008. Pediatr Res. 1991. PMID: 1754298
156 results