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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F. Guldberg P, et al. Among authors: ponzone a. Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920. Am J Hum Genet. 1998. PMID: 9634518 Free PMC article.
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: ponzone a. Am J Hum Genet. 1994 Oct;55(4):851-3. Am J Hum Genet. 1994. PMID: 7942862 Free PMC article. 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: ponzone a. 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
RFLPs of the phenylalanine hydroxylase gene in the Italian population.
Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl HH, Cotton RG, Ponzone A. Dianzani I, et al. Among authors: ponzone r, ponzone a. J Inherit Metab Dis. 1989;12(2):162-5. doi: 10.1007/BF01800721. J Inherit Metab Dis. 1989. PMID: 2569049
167 results