메뉴 건너뛰기




Volumn , Issue , 2006, Pages 135-142

Disorders of fructose metabolism

Author keywords

[No Author keywords available]

Indexed keywords


EID: 77958089272     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_9     Document Type: Chapter
Times cited : (12)

References (25)
  • 1
    • 0028142878 scopus 로고
    • Molecular basis of essential fructosuria: Molecular cloning and mutational analysis of human ketohexokinase (fructokinase)
    • Bonthron DT, Brady N, Donaldson IA, Steinmann B (1994) Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum Mol Genet 3:1627-1631
    • (1994) Hum Mol Genet , vol.3 , pp. 1627-1631
    • Bonthron, D.T.1    Brady, N.2    Donaldson, I.A.3    Steinmann, B.4
  • 2
    • 0041819987 scopus 로고    scopus 로고
    • Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria
    • Asipu A, Hayward BE, O'Reilly J, Bonthron DT (2003) Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. Diabetes 52:2426-2432
    • (2003) Diabetes , vol.52 , pp. 2426-2432
    • Asipu, A.1    Hayward, B.E.2    O'Reilly, J.3    Bonthron, D.T.4
  • 3
    • 0028147901 scopus 로고
    • Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy
    • Boesiger P, Buchli R, Meier D, Steinmann B, Gitzelmann R (1994) Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. Pediatr Res 36:436-440
    • (1994) Pediatr Res , vol.36 , pp. 436-440
    • Boesiger, P.1    Buchli, R.2    Meier, D.3    Steinmann, B.4    Gitzelmann, R.5
  • 4
    • 0007943758 scopus 로고
    • Die hereditäre Fructoseintoleranz, eine bisher nicht bekannte kongenitale Stoffwechselstörung
    • Froesch ER, Prader A, Labhart A, Stuber HW, Wolf HP (1957) Die hereditäre Fructoseintoleranz, eine bisher nicht bekannte kongenitale Stoffwechselstörung. Schweiz Med Wochenschr 87:1168-1171
    • (1957) Schweiz Med Wochenschr , vol.87 , pp. 1168-1171
    • Froesch, E.R.1    Prader, A.2    Labhart, A.3    Stuber, H.W.4    Wolf, H.P.5
  • 5
    • 0018068312 scopus 로고
    • Hereditary fructose intolerance in early childhood: A major diagnostic challenge. Survey of 20 symptomatic cases
    • Baerlocher K, Gitzelmann R, Steinmann B, Gitzelmann-Cumarasamy N (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. Helv Paediatr Acta 33:465-487
    • (1978) Helv Paediatr Acta , vol.33 , pp. 465-487
    • Baerlocher, K.1    Gitzelmann, R.2    Steinmann, B.3    Gitzelmann-Cumarasamy, N.4
  • 6
    • 0020613873 scopus 로고
    • Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation
    • Mock DM, Perman JA, Thaler MM, Morris RC Jr (1983) Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation. N Engl J Med 309:764-770
    • (1983) N Engl J Med , vol.309 , pp. 764-770
    • Mock, D.M.1    Perman, J.A.2    Thaler, M.M.3    Morris Jr., R.C.4
  • 7
    • 0018075620 scopus 로고
    • Hereditary fructose intolerance: A difficult diagnosis in the adult
    • Lameire N, Mussche M, Baele G, Kint J, Ringoir S (1978) Hereditary fructose intolerance: a difficult diagnosis in the adult. Am J Med 65:416-423
    • (1978) Am J Med , vol.65 , pp. 416-423
    • Lameire, N.1    Mussche, M.2    Baele, G.3    Kint, J.4    Ringoir, S.5
  • 8
    • 0017873908 scopus 로고
    • Metabolic effects of fructose in the liver
    • Van den Berghe G (1978) Metabolic effects of fructose in the liver. Curr Top Cell Regul 13:97-135
    • (1978) Curr Top Cell Regul , vol.13 , pp. 97-135
    • Van Den Berghe, G.1
  • 9
    • 0029957579 scopus 로고    scopus 로고
    • Inhibition of phosphomannose isomerase by fructose-1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance
    • Jaeken J, Pirard M, Adamowicz M, Pronicka E, Van Schaftingen E (1996) Inhibition of phosphomannose isomerase by fructose-1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 40:764-766
    • (1996) Pediatr Res , vol.40 , pp. 764-766
    • Jaeken, J.1    Pirard, M.2    Adamowicz, M.3    Pronicka, E.4    Van Schaftingen, E.5
  • 10
    • 0015521322 scopus 로고
    • Dangers of intravenous fructose
    • Woods HF, Alberti K G MM (1972) Dangers of intravenous fructose. Lancet II: 1354-1357
    • (1972) Lancet , vol.2 , pp. 1354-1357
    • Woods, H.F.1    Alberti, K.G.M.M.2
  • 11
    • 0025060128 scopus 로고
    • Molecular analysis of aldolase B genes in hereditary fructose intolerance
    • Cross N C P, DeFranchis R, Sebastio G et al (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet I: 306-309
    • (1990) Lancet , vol.1 , pp. 306-309
    • Cross, N.C.P.1    DeFranchis, R.2    Sebastio, G.3
  • 12
    • 84895199647 scopus 로고    scopus 로고
    • The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe
    • Santer R, Rischewski J, von Weihe M et al (2005) The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (submitted)
    • (2005) (submitted)
    • Santer, R.1    Rischewski, J.2    Von Weihe, M.3
  • 13
    • 0026646728 scopus 로고
    • Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans
    • Tolan DR, Brooks CC (1992) Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans. Biochem Med Metabol Biol 48:19-25
    • (1992) Biochem Med Metabol Biol , vol.48 , pp. 19-25
    • Tolan, D.R.1    Brooks, C.C.2
  • 14
    • 0036881903 scopus 로고    scopus 로고
    • Simple method for detection of mutations causing hereditary fructose intolerance
    • Kullberg-Lindh C, Hannoun C, Lindh M (2002) Simple method for detection of mutations causing hereditary fructose intolerance. J Inherit Metab Dis 25:571-575.
    • (2002) J Inherit Metab Dis , vol.25 , pp. 571-575
    • Kullberg-Lindh, C.1    Hannoun, C.2    Lindh, M.3
  • 15
    • 0036274917 scopus 로고    scopus 로고
    • The genetic consequences of our sweet tooth
    • Cox TM (2002) The genetic consequences of our sweet tooth. Nat Rev Genet 3:481-487
    • (2002) Nat Rev Genet , vol.3 , pp. 481-487
    • Cox, T.M.1
  • 16
    • 0019511485 scopus 로고
    • The diagnosis of hereditary fructose intolerance
    • Steinmann B, Gitzelmann R (1981) The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta 36:297-316
    • (1981) Helv Paediatr Acta , vol.36 , pp. 297-316
    • Steinmann, B.1    Gitzelmann, R.2
  • 17
    • 0018224579 scopus 로고
    • Hereditary fructose intolerance in childhood. Diagnosis, management and course in 55 patients
    • Odièvre M, Gentil C, Gautier M, Alagille D (1978) Hereditary fructose intolerance in childhood. Diagnosis, management and course in 55 patients. Am J Dis Child 132:605-608
    • (1978) Am J Dis Child , vol.132 , pp. 605-608
    • Odièvre, M.1    Gentil, C.2    Gautier, M.3    Alagille, D.4
  • 18
    • 84895389691 scopus 로고    scopus 로고
    • Patterns of growth in inherited fructose intolerance (Abstract)
    • Chevalier P, Trioche P, Odièvre M, Labrune P (1996) Patterns of growth in inherited fructose intolerance (Abstract). Pediatr Res 40:524
    • (1996) Pediatr Res , vol.40 , pp. 524
    • Chevalier, P.1    Trioche, P.2    Odièvre, M.3    Labrune, P.4
  • 19
    • 0014932473 scopus 로고
    • Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1, 6-bisphosphatase activity
    • Baker L, Winegrad AI (1970) Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1, 6-bisphosphatase activity. Lancet II: 13-16
    • (1970) Lancet , vol.2 , pp. 13-16
    • Baker, L.1    Winegrad, A.I.2
  • 20
    • 84886055211 scopus 로고    scopus 로고
    • Natural history and treatment of fructose 1, 6-diphosphatase deficiency in the Netherlands (Abstract)
    • Visser G, Bakker HD, deKlerk J B C et al (2004) Natural history and treatment of fructose 1, 6-diphosphatase deficiency in the Netherlands (Abstract). J Inherit Metab Dis 27 [Suppl 1]: 207
    • (2004) J Inherit Metab Dis , vol.27 , Issue.SUPPL. 1 , pp. 207
    • Visser, G.1    Bakker, H.D.2    DeKlerk, J.B.C.3
  • 21
    • 0028950565 scopus 로고
    • Impaired ketogenesis in fructose-1, 6-bisphosphatase deficiency: A pitfall in the investigation of hypoglycemia
    • Morris AA, Deshphande S, Ward-Platt MP et al (1995) Impaired ketogenesis in fructose-1, 6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycemia. J Inherit Metab Dis 18:28-32
    • (1995) J Inherit Metab Dis , vol.18 , pp. 28-32
    • Morris, A.A.1    Deshphande, S.2    Ward-Platt, M.P.3
  • 22
    • 0029050829 scopus 로고
    • Human fructose-1, 6-bisphosphatase gene (FBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1, 6-bisphosphatase deficiency
    • El-Maghrabi MR, Lange AJ, Jiang W et al (1995) Human fructose-1, 6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1, 6-bisphosphatase deficiency. Genomics 27:520-525
    • (1995) Genomics , vol.27 , pp. 520-525
    • El-Maghrabi, M.R.1    Lange, A.J.2    Jiang, W.3
  • 23
    • 16944363755 scopus 로고    scopus 로고
    • Identification of genetic mutations in Japanese patients with fructose-1, 6-bisphosphatase deficiency
    • Kikawa Y, Inuzuka M, Jin BY et al (1997) Identification of genetic mutations in Japanese patients with fructose-1, 6-bisphosphatase deficiency. Am J Hum Genet 61:852-861
    • (1997) Am J Hum Genet , vol.61 , pp. 852-861
    • Kikawa, Y.1    Inuzuka, M.2    Jin, B.Y.3
  • 24
    • 0020483680 scopus 로고
    • Fructose 2, 6-bisphosphate two years after its discovery
    • Hers HG, Van Schaftingen E (1982) Fructose 2, 6-bisphosphate two years after its discovery. Biochem J 206:1-12
    • (1982) Biochem J , vol.206 , pp. 1-12
    • Hers, H.G.1    Van Schaftingen, E.2
  • 25
    • 0028137018 scopus 로고
    • Fructose-1, 6-bisphosphatase deficiency: Severe phenotype with normal leukocyte enzyme activity
    • Besley G T N, Walter JH, Lewis MA, Chard CR, Addison GM (1994) Fructose-1, 6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inherit Metab Dis 17:333-335
    • (1994) J Inherit Metab Dis , vol.17 , pp. 333-335
    • Besley, G.T.N.1    Walter, J.H.2    Lewis, M.A.3    Chard, C.R.4    Addison, G.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.