Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 104

1.

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

Coffee EM, Tolan DR.

J Inherit Metab Dis. 2010 Dec;33(6):715-25. doi: 10.1007/s10545-010-9192-5. Epub 2010 Sep 30.

2.

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR.

J Inherit Metab Dis. 2010 Feb;33(1):33-42. doi: 10.1007/s10545-009-9008-7. Epub 2009 Dec 23.

3.
4.

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
5.
6.

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
7.

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
9.

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
10.

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.

11.

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.

12.
13.

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
14.

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

Chi ZN, Hong J, Yang J, Zhang HJ, Dai M, Cui B, Zhang Y, Gu WQ, Zhang YF, Liu QR, Wang WQ, Li XY, Ning G.

Endocrine. 2007 Aug;32(1):122-6. Epub 2007 Oct 23.

PMID:
17955389
15.

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
16.

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
17.

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
18.

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.

Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans.

Tolan DR, Brooks CC.

Biochem Med Metab Biol. 1992 Aug;48(1):19-25.

PMID:
1524867
20.

Partial aldolase B gene deletions in hereditary fructose intolerance.

Cross NC, Cox TM.

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

Supplemental Content

Support Center