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Results: 1 to 20 of 263

Related Citations for PubMed (Select 18541450)

1.

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C.

Mol Genet Metab. 2008 Aug;94(4):443-7. doi: 10.1016/j.ymgme.2008.05.003. Epub 2008 Jun 9.

PMID:
18541450
2.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R.

Hum Mutat. 2005 Jun;25(6):594.

PMID:
15880727
3.

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.

Hum Mutat. 2004 Dec;24(6):534.

PMID:
15532022
4.

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A.

Eur J Gastroenterol Hepatol. 2008 Feb;20(2):118-21. doi: 10.1097/MEG.0b013e3282f172e6.

PMID:
18188031
5.

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM.

J Med Genet. 1991 Apr;28(4):241-3.

6.

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F.

Hum Mutat. 2010 Dec;31(12):1294-303. doi: 10.1002/humu.21359. Epub 2010 Nov 16.

PMID:
20848650
7.

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

Gruchota J, Pronicka E, Korniszewski L, Stolarski B, Pollak A, Rogaszewska M, Płoski R.

Mol Genet Metab. 2006 Apr;87(4):376-8. Epub 2006 Jan 10.

PMID:
16406649
8.

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

Ali M, Tunçman G, Cross NC, Vidailhet M, Bökesoy I, Gitzelmann R, Cox TM.

J Med Genet. 1994 Jun;31(6):499-503.

10.

Partial aldolase B gene deletions in hereditary fructose intolerance.

Cross NC, Cox TM.

Am J Hum Genet. 1990 Jul;47(1):101-6.

11.
12.

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E.

J Inherit Metab Dis. 2007 Jun;30(3):407. Epub 2007 Apr 24.

PMID:
17457694
13.
14.

Simple method for detection of mutations causing hereditary fructose intolerance.

Kullberg-Lindh C, Hannoun C, Lindh M.

J Inherit Metab Dis. 2002 Nov;25(7):571-5.

PMID:
12638940
16.

Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al.

Lancet. 1990 Feb 10;335(8685):306-9.

PMID:
1967768
17.

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F.

J Med Genet. 1996 Sep;33(9):786-8.

19.
20.

Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.

Kriegshäuser G, Halsall D, Rauscher B, Oberkanins C.

Mol Cell Probes. 2007 Jun;21(3):226-8. Epub 2007 Jan 12.

PMID:
17292585
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