Salvatore F - Search Results

1

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A, Castaldo G, Zagari A, Salvatore F. Daniele A, et al. Among authors: salvatore f. Biochim Biophys Acta. 2008 Jun;1782(6):378-84. doi: 10.1016/j.bbadis.2008.01.012. Epub 2008 Feb 20. Biochim Biophys Acta. 2008. PMID: 18346471 Free article.

2

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

Salvatore F, Scudiero O, Castaldo G. Salvatore F, et al. Am J Med Genet. 2002 Jul 22;111(1):88-95. doi: 10.1002/ajmg.10461. Am J Med Genet. 2002. PMID: 12124743 Review.

3

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. FEBS Lett. 2002 Nov 6;531(2):152-6. doi: 10.1016/s0014-5793(02)03451-8. FEBS Lett. 2002. PMID: 12417303 Free article.

4

Denaturing HPLC procedure for factor IX gene scanning.

Castaldo G, Nardiello P, Bellitti F, Rocino A, Coppola A, di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem. 2003 May;49(5):815-8. doi: 10.1373/49.5.815. Clin Chem. 2003. PMID: 12709378 No abstract available.

5

Haemophilia B: from molecular diagnosis to gene therapy.

Castaldo G, Nardiello P, Bellitti F, Santamaria R, Rocino A, Coppola A, di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem Lab Med. 2003 Apr;41(4):445-51. doi: 10.1515/CCLM.2003.067. Clin Chem Lab Med. 2003. PMID: 12747585 Review.

6

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Biochem J. 2004 May 15;380(Pt 1):51-6. doi: 10.1042/BJ20031941. Biochem J. 2004. PMID: 14766013 Free PMC article.

7

Butyrate as an effective treatment of congenital chloride diarrhea.

Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R. Canani RB, et al. Among authors: salvatore f. Gastroenterology. 2004 Aug;127(2):630-4. doi: 10.1053/j.gastro.2004.03.071. Gastroenterology. 2004. PMID: 15300594

8

Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.

Salvatore D, Tomaiuolo R, Abate R, Vanacore B, Manieri S, Mirauda MP, Scavone A, Schiavo MV, Castaldo G, Salvatore F. Salvatore D, et al. Among authors: salvatore f. J Cyst Fibros. 2004 Jun;3(2):135-6. doi: 10.1016/j.jcf.2004.01.007. J Cyst Fibros. 2004. PMID: 15463898 Free article.

9

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9290. Hum Mutat. 2004. PMID: 15532022

10

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation.

Polizzi A, Francavilla R, Castaldo G, Santostasi T, Tomaiuolo R, Manca A, De Robertis F, Mappa L, Oliverio FP, Salvatore F, Rigillo N. Polizzi A, et al. Among authors: salvatore f. Am J Med Genet A. 2005 Feb 1;132A(4):434-40. doi: 10.1002/ajmg.a.30493. Am J Med Genet A. 2005. PMID: 15633186

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

859 results

Search Page

Filters