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42. 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]
43. Mutation of aldolase B genes in hereditary fructose intolerance. de Souza M, Lindeman R, Volpato F, Trent RJ, Kamath R. Lancet; 1990 Apr 07; 335(8693):856. PubMed ID: 1969579 [No Abstract] [Full Text] [Related]
44. DNA diagnosis of fatal fructose intolerance from archival tissue. Ali M, Rosien U, Cox TM. Q J Med; 1993 Jan 07; 86(1):25-30. PubMed ID: 8438046 [Abstract] [Full Text] [Related]
45. 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 07; 20(2):118-21. PubMed ID: 18188031 [Abstract] [Full Text] [Related]
46. 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 07; 30(3):407. PubMed ID: 17457694 [Abstract] [Full Text] [Related]
47. 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]
51. The biochemical basis of hereditary fructose intolerance. Bouteldja N, Timson DJ. J Inherit Metab Dis; 2010 Apr 26; 33(2):105-12. PubMed ID: 20162364 [Abstract] [Full Text] [Related]
52. 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]
53. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F. Biochem J; 2000 Sep 15; 350 Pt 3(Pt 3):823-8. PubMed ID: 10970798 [Abstract] [Full Text] [Related]
54. Identification of a novel mutation (Leu256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Ali M, Sebastio G, Cox TM. Hum Mol Genet; 1994 Apr 15; 3(4):684. PubMed ID: 8069328 [No Abstract] [Full Text] [Related]
55. [Study of hereditary fructose intolerance by methods of molecular biology]. Dreyfus JC, Schapira F, Besmond C, Gregori C, Kahn A. Ann Med Interne (Paris); 1985 Apr 15; 136(6):456-8. PubMed ID: 3841265 [Abstract] [Full Text] [Related]
56. 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]
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59. [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 Jan 28; 212(3):108-9. PubMed ID: 10916780 [Abstract] [Full Text] [Related]
60. A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. Ali M, James CL, Cox TM. Hum Mutat; 1996 Jan 28; 7(2):155-7. PubMed ID: 8829634 [No Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]