260 related articles for article (PubMed ID: 20882353)
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. PubMed ID: 20882353
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20033295
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15880727
[TBL] [Abstract][Full Text] [Related]
4. Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
Brooks CC; Buist N; Tuerck J; Tolan DR
Am J Hum Genet; 1991 Nov; 49(5):1075-81. PubMed ID: 1928090
[TBL] [Abstract][Full Text] [Related]
5. A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
Brooks CC; Tolan DR
FASEB J; 1994 Jan; 8(1):107-13. PubMed ID: 8299883
[TBL] [Abstract][Full Text] [Related]
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):443-447. PubMed ID: 18541450
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15532022
[TBL] [Abstract][Full Text] [Related]
8. Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
Brooks CC; Tolan DR
Am J Hum Genet; 1993 Apr; 52(4):835-40. PubMed ID: 8096362
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel mutation in the
Beyzaei Z; Ezgu F; Imanieh MH; Haghighat M; Dehghani SM; Honar N; Geramizadeh B
J Pediatr Endocrinol Metab; 2023 Mar; 36(3):331-334. PubMed ID: 36659819
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 20848650
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 17955389
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12638940
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 1856829
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 16406649
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 8071980
[TBL] [Abstract][Full Text] [Related]
16. Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Gunduz M; Ünal-Uzun Ö; Koç N; Ceylaner S; Özaydın E; Kasapkara ÇS
J Pediatr Endocrinol Metab; 2021 Aug; 34(8):1017-1022. PubMed ID: 34162028
[TBL] [Abstract][Full Text] [Related]
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
Lancet; 1990 Feb; 335(8685):306-9. PubMed ID: 1967768
[TBL] [Abstract][Full Text] [Related]
18. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
Cross NC; Tolan DR; Cox TM
Cell; 1988 Jun; 53(6):881-5. PubMed ID: 3383242
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 17292585
[TBL] [Abstract][Full Text] [Related]
20. Partial aldolase B gene deletions in hereditary fructose intolerance.
Cross NC; Cox TM
Am J Hum Genet; 1990 Jul; 47(1):101-6. PubMed ID: 2349937
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]