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Volumn 19, Issue 4, 1996, Pages 470-477

Disorders of gluconeogenesis

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; FRUCTOSE BISPHOSPHATASE; GLUCOSE; GLUCOSE 6 PHOSPHATASE; GLYCEROL; LACTIC ACID; PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP); PYRUVATE CARBOXYLASE; PYRUVIC ACID;

EID: 0029742931     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799108     Document Type: Conference Paper
Times cited : (58)

References (26)
  • 1
    • 0014932473 scopus 로고
    • Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity
    • Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet ii: 13-16.
    • (1970) Lancet , vol.2 , pp. 13-16
    • Baker, L.1    Winegrad, A.I.2
  • 2
    • 0028137018 scopus 로고
    • Fructose-1,6-bisphosphatase deficiency: Severe phenotype with normal leukocyte enzyme activity
    • Besley GTN, Walter JH, Lewis MA, Chard CR, Addison GM (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inher Metab Dis 17: 333-335.
    • (1994) J Inher 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
  • 3
    • 0027496432 scopus 로고
    • Nuclear complementation restores MtDNA levels in cultured cells from patient with MtDNA depletion
    • Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Shapira AHV (1993) Nuclear complementation restores MtDNA levels in cultured cells from patient with MtDNA depletion. Am J Hum Genet 53: 663-669.
    • (1993) Am J Hum Genet , vol.53 , pp. 663-669
    • Bodnar, A.G.1    Cooper, J.M.2    Holt, I.J.3    Leonard, J.V.4    Shapira, A.H.V.5
  • 4
    • 0028931797 scopus 로고
    • Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication
    • Bodnar AG, Cooper JM, Leonard JV, Shapira AHV (1995) Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication. Biochem J 305: 817-822.
    • (1995) Biochem J , vol.305 , pp. 817-822
    • Bodnar, A.G.1    Cooper, J.M.2    Leonard, J.V.3    Shapira, A.H.V.4
  • 6
    • 0025423262 scopus 로고
    • Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
    • Bührdel P, Böhme H-J, Didt L (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Em J Pediatr 149: 574-576.
    • (1990) Em J Pediatr , vol.149 , pp. 574-576
    • Bührdel, P.1    Böhme, H.-J.2    Didt, L.3
  • 7
    • 26644452126 scopus 로고
    • Disorders of gluconeogenesis
    • Fernandes J, Saudubray J-M, van den Berghe G, eds. New York: Springer Verlag
    • Buist NRM (1995) Disorders of gluconeogenesis. In Fernandes J, Saudubray J-M, van den Berghe G, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 2nd edn. New York: Springer Verlag, 101-106.
    • (1995) Inborn Metabolic Diseases. Diagnosis and Treatment, 2nd Edn. , pp. 101-106
    • Buist, N.R.M.1
  • 8
    • 0022624914 scopus 로고
    • Mitochondrial phosphoenolpyruvate carboxykinase deficiency
    • Clayton PT, Hyland K, Brand M, Leonard JV (1986) Mitochondrial phosphoenolpyruvate carboxykinase deficiency. Eur J Pediatr 145: 46-50.
    • (1986) Eur J Pediatr , vol.145 , pp. 46-50
    • Clayton, P.T.1    Hyland, K.2    Brand, M.3    Leonard, J.V.4
  • 9
    • 0027173944 scopus 로고
    • Isolation of a human liver fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli
    • El-Maghrabi MR, Gidh-Jain M, Austin LR, Pilkis SJ (1993) Isolation of a human liver fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli. J Biol Chem 268: 9466-9472.
    • (1993) J Biol Chem , vol.268 , pp. 9466-9472
    • El-Maghrabi, M.R.1    Gidh-Jain, M.2    Austin, L.R.3    Pilkis, S.J.4
  • 10
    • 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
  • 11
    • 27044433182 scopus 로고
    • Hepatic phosphoenolpyruvate carboxykinase deficiency - A new cause of hypoglycaemia in childhood
    • Fiser RH, Meisher HL, Fisher DA (1974) Hepatic phosphoenolpyruvate carboxykinase deficiency - a new cause of hypoglycaemia in childhood. Pediatr Res 10: 60.
    • (1974) Pediatr Res , vol.10 , pp. 60
    • Fiser, R.H.1    Meisher, H.L.2    Fisher, D.A.3
  • 13
    • 0028256624 scopus 로고
    • Phosphoenolpyruvate carboxykinase (GTP): The gene and the enzyme
    • Hanson RW, Patel YM (1994) Phosphoenolpyruvate carboxykinase (GTP): the gene and the enzyme. Adv Enzymol 69: 203-281.
    • (1994) Adv Enzymol , vol.69 , pp. 203-281
    • Hanson, R.W.1    Patel, Y.M.2
  • 14
    • 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
  • 15
    • 0028216642 scopus 로고
    • cDNA sequences encoding human fructose-1,6-bisphosphatase from monocytes, liver and kidney: Application of monocytes to molecular analysis of human fructose-1,6-bisphosphatase deficiency
    • Kikawa Y, Inuzuka M, Takano T, et al (1994) cDNA sequences encoding human fructose-1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose-1,6-bisphosphatase deficiency. Biochem Biophys Res Commun 199: 687-693.
    • (1994) Biochem Biophys Res Commun , vol.199 , pp. 687-693
    • Kikawa, Y.1    Inuzuka, M.2    Takano, T.3
  • 16
    • 0029087358 scopus 로고
    • DNA identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency
    • Kikawa Y, Inuzuka M, Jin BY, et al (1995) cDNA identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency. Biochem Biophys Res Commun 210: 797-804.
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 797-804
    • Kikawa, Y.1    Inuzuka, M.2    Jin, B.Y.3
  • 17
  • 18
    • 0028950565 scopus 로고
    • Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: A pitfall in the investigation of hypoglycaemia
    • Morris AAM, Deshpande S, Ward-Platt MP, et al (1995) Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. J Inher Metab Dis 18: 28-32.
    • (1995) J Inher Metab Dis , vol.18 , pp. 28-32
    • Morris, A.A.M.1    Deshpande, S.2    Ward-Platt, M.P.3
  • 20
    • 0027488398 scopus 로고
    • Mammalian 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase: A bifunctional enzyme that controls glycolysis
    • Rousseau GG, Hue L (1993) Mammalian 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase: a bifunctional enzyme that controls glycolysis. Prog Nucleic Acid Res Mol Biol 45: 99-127.
    • (1993) Prog Nucleic Acid Res Mol Biol , vol.45 , pp. 99-127
    • Rousseau, G.G.1    Hue, L.2
  • 22
    • 0027416711 scopus 로고
    • Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: Normal leukocyte enzyme activity in three female patients
    • Shin Y (1993) Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients. Clin Invest 71: 115-118.
    • (1993) Clin Invest , vol.71 , pp. 115-118
    • Shin, Y.1
  • 23
    • 0017249130 scopus 로고
    • Gluconeogenesis in infancy and childhood. III. Deficiency of the extra-mitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia
    • Vidnes J, Sovik O (1976) Gluconeogenesis in infancy and childhood. III. Deficiency of the extra-mitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia. Acta Paediatr Scand 65: 307-312.
    • (1976) Acta Paediatr Scand , vol.65 , pp. 307-312
    • Vidnes, J.1    Sovik, O.2
  • 24
    • 0019802895 scopus 로고
    • The unique role of the kidney in gluconeogenesis in the chicken. the significance of a cytosolic form of phosphoenolpyruvate carboxykinase
    • Watford M, Hod Y, Chiao Y-B, Utter MF, Hanson RW (1981) The unique role of the kidney in gluconeogenesis in the chicken. The significance of a cytosolic form of phosphoenolpyruvate carboxykinase. J Biol Chem 256: 10023-10027.
    • (1981) J Biol Chem , vol.256 , pp. 10023-10027
    • Watford, M.1    Hod, Y.2    Chiao, Y.-B.3    Utter, M.F.4    Hanson, R.W.5
  • 25
    • 0015521322 scopus 로고
    • Dangers of intravenous fructose
    • Woods HF, Alberti KGMM (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
  • 26
    • 0027251304 scopus 로고
    • Phosphoenolpyruvate carboxykinase (GTP): Characterization of the human PCK1 gene and localization distal to MODY on chromosome 20
    • Yu C-N, Burgess DL, Chamberlain JS, Keith TP, Falls K, Meisler MH (1993) Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. Genomics 16: 698-706.
    • (1993) Genomics , vol.16 , pp. 698-706
    • Yu, C.-N.1    Burgess, D.L.2    Chamberlain, J.S.3    Keith, T.P.4    Falls, K.5    Meisler, M.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.