Riva E - Search Results

1

Two novel PAH gene mutations detected in Italian phenylketonuric patients.

Argiolas A, Bosco P, Calì F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V. Argiolas A, et al. Among authors: riva e. Hum Genet. 1997 Feb;99(2):275-8. doi: 10.1007/s004390050353. Hum Genet. 1997. PMID: 9048935

2

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: riva e. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

3

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: riva e. Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703. Hum Mol Genet. 1993. PMID: 8268925

4

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: riva e. Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920. Am J Hum Genet. 1998. PMID: 9634518 Free PMC article.

5

Early breastfeeding is linked to higher intelligence quotient scores in dietary treated phenylketonuric children.

Riva E, Agostoni C, Biasucci G, Trojan S, Luotti D, Fiori L, Giovannini M. Riva E, et al. Acta Paediatr. 1996 Jan;85(1):56-8. doi: 10.1111/j.1651-2227.1996.tb13890.x. Acta Paediatr. 1996. PMID: 8834980

6

The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children.

Agostoni C, Riva E, Biasucci G, Luotti D, Bruzzese MG, Marangoni F, Giovannini M. Agostoni C, et al. Among authors: riva e. Prostaglandins Leukot Essent Fatty Acids. 1995 Dec;53(6):401-4. doi: 10.1016/0952-3278(95)90103-5. Prostaglandins Leukot Essent Fatty Acids. 1995. PMID: 8821120 Clinical Trial.

7

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: riva e. Hum Genet. 1990 Nov;86(1):69-72. doi: 10.1007/BF00205176. Hum Genet. 1990. PMID: 1979309

8

Lipid status and fatty acid metabolism in phenylketonuria.

Giovannini M, Biasucci G, Agostoni C, Luotti D, Riva E. Giovannini M, et al. Among authors: riva e. J Inherit Metab Dis. 1995;18(3):265-72. doi: 10.1007/BF00710414. J Inherit Metab Dis. 1995. PMID: 7474891 Review.

9

Fatty acid supplementation in a case of maternal phenylketonuria.

Giovannini M, Biasucci G, Agostoni C, Bellù R, Riva E. Giovannini M, et al. Among authors: riva e. J Inherit Metab Dis. 1994;17(5):630-1. doi: 10.1007/BF00711606. J Inherit Metab Dis. 1994. PMID: 7837774 No abstract available.

10

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.

Dianzani I, Knappskog PM, de Sanctis L, Giannattasio S, Riva E, Ponzone A, Apold J, Camaschella C. Dianzani I, et al. Among authors: riva e. Hum Mutat. 1995;6(3):247-9. doi: 10.1002/humu.1380060308. Hum Mutat. 1995. PMID: 8535444 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

650 results

Search Page

Filters