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4. 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]
5. [Congenital fructose intolerance. New molecular aspects]. Larsen K; Adnanes O; Aarskog NK; Runde I; Ogreid D Tidsskr Nor Laegeforen; 1994 Nov; 114(28):3312-4. PubMed ID: 7809888 [TBL] [Abstract][Full Text] [Related]
6. 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; 350 Pt 3(Pt 3):823-8. PubMed ID: 10970798 [TBL] [Abstract][Full Text] [Related]
7. Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Cross NC; Cox TM Q J Med; 1989 Nov; 73(271):1015-20. PubMed ID: 2623136 [TBL] [Abstract][Full Text] [Related]
8. 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; 72(1):201-13. PubMed ID: 6348085 [TBL] [Abstract][Full Text] [Related]
9. Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications. Santamaria R; Vitagliano L; Tamasi S; Izzo P; Zancan L; Zagari A; Salvatore F Eur J Hum Genet; 1999; 7(4):409-14. PubMed ID: 10352930 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Isoelectrofocusing of aldolase B from normal human livers and from livers with hereditary fructose intolerance. Schapira F; Gregori C; Hatzfeld A Clin Chim Acta; 1977 Jul; 78(1):1-8. PubMed ID: 884843 [TBL] [Abstract][Full Text] [Related]
12. DNA diagnosis of fatal fructose intolerance from archival tissue. Ali M; Rosien U; Cox TM Q J Med; 1993 Jan; 86(1):25-30. PubMed ID: 8438046 [TBL] [Abstract][Full Text] [Related]
13. Structural mutation of aldolase B in hereditary fructose intolerance: electrofocusing results. Schapira F; Hatzfeld A; Gregori C Monogr Hum Genet; 1978; 9():2-6. PubMed ID: 732841 [No Abstract] [Full Text] [Related]
14. 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. PubMed ID: 18188031 [TBL] [Abstract][Full Text] [Related]
15. 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; 3(4):684. PubMed ID: 8069328 [No Abstract] [Full Text] [Related]
16. [Liver fructose-1-phosphate and fructose-1,6-diphosphate aldolase deficiency in hereditary fructose intolerance (author's transl)]. Joosten R; Berzdorf M; de Barsy T; Habedank M Klin Padiatr; 1981 Sep; 193(5):392-3. PubMed ID: 7289434 [No Abstract] [Full Text] [Related]
17. Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy. Cox TM; Camilleri M; O'Donnell MW; Chadwick VS N Engl J Med; 1982 Aug; 307(9):537-40. PubMed ID: 7099225 [No Abstract] [Full Text] [Related]
19. Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. Malay AD; Allen KN; Tolan DR J Mol Biol; 2005 Mar; 347(1):135-44. PubMed ID: 15733923 [TBL] [Abstract][Full Text] [Related]
20. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. Tolan DR Hum Mutat; 1995; 6(3):210-8. PubMed ID: 8535439 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]