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Genetic history of phenylketonuria mutations in Italy.
Dianzani I, Giannattasio S, de Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A. Dianzani I, et al. Among authors: de sanctis l. Am J Hum Genet. 1994 Oct;55(4):851-3. Am J Hum Genet. 1994. PMID: 7942862 Free PMC article. No abstract available.
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. Among authors: de sanctis l. Eur J Hum Genet. 1995;3(5):294-302. doi: 10.1159/000472313. Eur J Hum Genet. 1995. PMID: 8556304
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.
Spada M, Ferraris S, Ferrero GB, Sartore M, Lanza C, Perfetto F, de Sanctis L, Dompé C, Blau N, Ponzone A. Spada M, et al. Among authors: de sanctis l. J Inherit Metab Dis. 1996;19(2):231-3. doi: 10.1007/BF01799437. J Inherit Metab Dis. 1996. PMID: 8739973 No abstract available.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG. Dianzani I, et al. Among authors: de sanctis l. Hum Mutat. 1998;12(4):267-73. doi: 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1998. PMID: 9744478
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. 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.
211 results