Giovannini M - Search Results

1

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, et al. Guldberg P, et al. Among authors: giovannini m. Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703. Hum Mol Genet. 1993. PMID: 8268925

2

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero GB, Cerone R, Romano C, Romeo G, Giovannini M, Riva E, et al. Dianzani I, et al. Among authors: giovannini m. Hum Genet. 1990 Nov;86(1):69-72. doi: 10.1007/BF00205176. Hum Genet. 1990. PMID: 1979309

3

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P. Romano V, et al. Among authors: giovannini m. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

4

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

Fiori L, Fiege B, Riva E, Giovannini M. Fiori L, et al. Among authors: giovannini m. Mol Genet Metab. 2005 Dec;86 Suppl 1:S67-74. doi: 10.1016/j.ymgme.2005.06.017. Epub 2005 Sep 28. Mol Genet Metab. 2005. PMID: 16198137

5

[Current aspects of hyperphenylalaninemia].

Segrè A, Giovannini M, Riva E. Segrè A, et al. Among authors: giovannini m. Minerva Pediatr. 1977 Apr 28;29(15):1037-46. Minerva Pediatr. 1977. PMID: 17825 Italian. No abstract available.

6

Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo SL. Dasovich M, et al. Among authors: giovannini m. Somat Cell Mol Genet. 1991 May;17(3):303-9. doi: 10.1007/BF01232824. Somat Cell Mol Genet. 1991. PMID: 2047941

7

[Prevention of congenital metabolic diseases. Early diagnosis by neonatal screening].

Giovannini M, Riva E. Giovannini M, et al. Minerva Med. 1979 Mar 31;70(16):1137-46. Minerva Med. 1979. PMID: 440584 Italian. No abstract available.

8

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.

Verduci E, Riva E, Agostoni C, Leviti S, Fiori L, Lammardo AM, Biondi ML, Giovannini M. Verduci E, et al. Among authors: giovannini m. Acta Paediatr. 2002;91(7):805-10. doi: 10.1080/08035250213217. Acta Paediatr. 2002. PMID: 12200907

9

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A. Cerone R, et al. Among authors: giovannini m. Adv Ther. 2013 Mar;30(3):212-28. doi: 10.1007/s12325-013-0011-x. Epub 2013 Feb 20. Adv Ther. 2013. PMID: 23436109 Review.

10

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A, Gianní ML, Verduci E, Biondi ML, Fiori L, Giovannini M, Riva E. Rottoli A, et al. Among authors: giovannini m. J Med Screen. 1999;6(4):193-4. doi: 10.1136/jms.6.4.193. J Med Screen. 1999. PMID: 10693064 Free article.

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