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153 related items for PubMed ID: 36659819

  • 1. Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.
    Beyzaei Z, Ezgu F, Imanieh MH, Haghighat M, Dehghani SM, Honar N, Geramizadeh B.
    J Pediatr Endocrinol Metab; 2023 Mar 28; 36(3):331-334. PubMed ID: 36659819
    [Abstract] [Full Text] [Related]

  • 2. 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 26; 34(8):1017-1022. PubMed ID: 34162028
    [Abstract] [Full Text] [Related]

  • 3. Epidemiological aspects of hereditary fructose intolerance: A database study.
    Pinheiro FC, Sperb-Ludwig F, Schwartz IVD.
    Hum Mutat; 2021 Dec 26; 42(12):1548-1566. PubMed ID: 34524712
    [Abstract] [Full Text] [Related]

  • 4. 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 26; 31(12):1294-303. PubMed ID: 20848650
    [Abstract] [Full Text] [Related]

  • 5. 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 26; 30(3):407. PubMed ID: 17457694
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 32(1):122-6. PubMed ID: 17955389
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 25(6):594. PubMed ID: 15880727
    [Abstract] [Full Text] [Related]

  • 8. Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.
    Oppelt SA, Sennott EM, Tolan DR.
    Mol Genet Metab; 2015 Mar 26; 114(3):445-50. PubMed ID: 25637246
    [Abstract] [Full Text] [Related]

  • 9. Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.
    Cox TM, O'Donnell MW, Camilleri M, Burghes AH.
    J Clin Invest; 1983 Jul 26; 72(1):201-13. PubMed ID: 6348085
    [Abstract] [Full Text] [Related]

  • 10. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
    Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ.
    Mol Genet Metab; 2018 Apr 26; 123(4):428-432. PubMed ID: 29510902
    [Abstract] [Full Text] [Related]

  • 11. Hereditary Fructose Intolerance Diagnosed in Adulthood.
    Kim MS, Moon JS, Kim MJ, Seong MW, Park SS, Ko JS.
    Gut Liver; 2021 Jan 15; 15(1):142-145. PubMed ID: 33028743
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 33(1):33-42. PubMed ID: 20033295
    [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 15; 28(4):241-3. PubMed ID: 1856829
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 33(6):715-25. PubMed ID: 20882353
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 24(6):534. PubMed ID: 15532022
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 94(4):443-447. PubMed ID: 18541450
    [Abstract] [Full Text] [Related]

  • 17. Estimation of hereditary fructose intolerance prevalence in the Chinese population.
    Tang M, Chen X, Ni Q, Lu Y, Wu B, Wang H, Yin Z, Zhou W, Dong X.
    Orphanet J Rare Dis; 2022 Aug 26; 17(1):326. PubMed ID: 36028839
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 87(4):376-8. PubMed ID: 16406649
    [Abstract] [Full Text] [Related]

  • 19. [Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly].
    Wössmann W, Wiemann J, Körber F, Gortner L.
    Klin Padiatr; 2000 Apr 26; 212(3):108-9. PubMed ID: 10916780
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 53(6):881-5. PubMed ID: 3383242
    [Abstract] [Full Text] [Related]

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