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Volumn 93, Issue 7, 2004, Pages 911-921

Glycerol kinase deficiency: Follow-up during 20 years, genetics, biochemistry and prognosis

Author keywords

Fasting; Glucose deficit; Glycerol kinase deficiency; Natural history; Physical exercise

Indexed keywords

GLYCEROL KINASE;

EID: 3042654860     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250410022747     Document Type: Review
Times cited : (22)

References (33)
  • 1
    • 0002098977 scopus 로고    scopus 로고
    • Disorders of glycerol metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • McCabe ERB. Disorders of glycerol metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001: 2217-37
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 2217-2237
    • McCabe, E.R.B.1
  • 2
    • 0002011734 scopus 로고    scopus 로고
    • Adrenal hypoplasias and aplasias
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • McCabe ERB. Adrenal hypoplasias and aplasias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001: 4263-73
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 4263-4273
    • McCabe, E.R.B.1
  • 3
    • 0018150506 scopus 로고
    • Familial hyperglycerolemia
    • Rose CI, Haines DS. Familial hyperglycerolemia. J Clin Invest 1978; 61: 163-70
    • (1978) J Clin Invest , vol.61 , pp. 163-170
    • Rose, C.I.1    Haines, D.S.2
  • 5
    • 0023203055 scopus 로고
    • Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome
    • Børresen AL, Hellerud C, Møller P, Søvik O, Berg K. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. Clin Genet 1987; 32: 254-9
    • (1987) Clin Genet , vol.32 , pp. 254-259
    • Børresen, A.L.1    Hellerud, C.2    Møller, P.3    Søvik, O.4    Berg, K.5
  • 6
    • 10744230405 scopus 로고    scopus 로고
    • Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency; investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene specific mRNA analysis
    • Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, et al. Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency; investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene specific mRNA analysis. Mol Genet Metab 2003; 79: 149-59
    • (2003) Mol Genet Metab , vol.79 , pp. 149-159
    • Hellerud, C.1    Adamowicz, M.2    Jurkiewicz, D.3    Taybert, J.4    Kubalska, J.5    Ciara, E.6
  • 7
    • 0037216249 scopus 로고    scopus 로고
    • Glycerol metabolism and determination of triglycerides - Clinical biochemical and molecular findings in six subjects
    • Hellerud C, Burlina A, Gabelli C, Ellis JR, Nyholm PG, Lindstedt S. Glycerol metabolism and determination of triglycerides - clinical biochemical and molecular findings in six subjects. Clin Chem Lab Med 2003; 41: 46-55
    • (2003) Clin Chem Lab Med , vol.41 , pp. 46-55
    • Hellerud, C.1    Burlina, A.2    Gabelli, C.3    Ellis, J.R.4    Nyholm, P.G.5    Lindstedt, S.6
  • 8
    • 0025694816 scopus 로고
    • The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states
    • Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JB, et al. The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 1990; 150: 80-5
    • (1990) Eur J Pediatr , vol.150 , pp. 80-85
    • Bonnefont, J.P.1    Specola, N.B.2    Vassault, A.3    Lombes, A.4    Ogier, H.5    De Klerk, J.B.6
  • 9
  • 10
    • 0020045023 scopus 로고
    • Differences in circulating gluconeogenic substrates during short-term fasting in men, women, and children
    • Haymond MW, Karl IE, Clarke WL, Pagliara AS, Santiago JV. Differences in circulating gluconeogenic substrates during short-term fasting in men, women, and children. Metabolism 1982; 31: 33-12
    • (1982) Metabolism , vol.31 , pp. 33-112
    • Haymond, M.W.1    Karl, I.E.2    Clarke, W.L.3    Pagliara, A.S.4    Santiago, J.V.5
  • 14
    • 0019721429 scopus 로고
    • Glycerol: A review of its pharmacology, pharmacokinetics, adverse reactions, and clinical use
    • Frank MS, Nahata MC, Hilty MD. Glycerol: a review of its pharmacology, pharmacokinetics, adverse reactions, and clinical use. Pharmacotherapy 1981; 1: 147-60
    • (1981) Pharmacotherapy , vol.1 , pp. 147-160
    • Frank, M.S.1    Nahata, M.C.2    Hilty, M.D.3
  • 15
    • 0028949927 scopus 로고
    • Glycerol gluconeogenesis in fasting humans
    • Baba H, Zhang XJ, Wolfe RR. Glycerol gluconeogenesis in fasting humans. Nutrition 1995; 11: 149-53
    • (1995) Nutrition , vol.11 , pp. 149-153
    • Baba, H.1    Zhang, X.J.2    Wolfe, R.R.3
  • 16
    • 0033493620 scopus 로고    scopus 로고
    • Glycerol production and utilization measured using stable isotopes
    • Landau BR. Glycerol production and utilization measured using stable isotopes. Proc Nutr Soc 1999; 58: 973-8
    • (1999) Proc Nutr Soc , vol.58 , pp. 973-978
    • Landau, B.R.1
  • 17
    • 0025255188 scopus 로고
    • Role of triglyceride-fatty acid cycle in controlling fat metabolism in humans during and after exercise
    • Wolfe RR, Klein S, Carraro F, Weber JM. Role of triglyceride-fatty acid cycle in controlling fat metabolism in humans during and after exercise. Am J Physiol 1990; 258: E382-9
    • (1990) Am J Physiol , vol.258
    • Wolfe, R.R.1    Klein, S.2    Carraro, F.3    Weber, J.M.4
  • 18
    • 0024416893 scopus 로고
    • Hypoglycemia: A pathophysiologic approach
    • Senior B, Sadeghi-Nejad A. Hypoglycemia: a pathophysiologic approach. Acta Paediatr Scand 1989; Suppl 352: 1-27
    • (1989) Acta Paediatr Scand , vol.352 , Issue.SUPPL. , pp. 1-27
    • Senior, B.1    Sadeghi-Nejad, A.2
  • 19
    • 0032934220 scopus 로고    scopus 로고
    • Carbohydrate as nutrient in the infant and child: Range of acceptable intake
    • Kalhan SC, Kilic I. Carbohydrate as nutrient in the infant and child: range of acceptable intake. Eur J Clin Nutr 1999; 53 Suppl 1: S94-100
    • (1999) Eur J Clin Nutr , vol.53 , Issue.1 SUPPL.
    • Kalhan, S.C.1    Kilic, I.2
  • 20
    • 0017655656 scopus 로고
    • Measurement of "true" glucose production rates in infancy and childhood with 6, 6-dideuteroglucose
    • Bier DM, Leake RD, Raymond MW, Arnold KJ, Gruenke LD, Sperling MA, et al. Measurement of "true" glucose production rates in infancy and childhood with 6, 6-dideuteroglucose. Diabetes 1977; 26: 1016-23
    • (1977) Diabetes , vol.26 , pp. 1016-1023
    • Bier, D.M.1    Leake, R.D.2    Raymond, M.W.3    Arnold, K.J.4    Gruenke, L.D.5    Sperling, M.A.6
  • 21
    • 0024892732 scopus 로고
    • Neurological manifestations of glycerol kinase deficiency: Improvement with nutritional therapy
    • Howell RR, Grier R, Dominguez B, Draehn DK. Neurological manifestations of glycerol kinase deficiency: improvement with nutritional therapy. Brain Dysfunct 1989; 2: 126-30
    • (1989) Brain Dysfunct , vol.2 , pp. 126-130
    • Howell, R.R.1    Grier, R.2    Dominguez, B.3    Draehn, D.K.4
  • 22
    • 0017566345 scopus 로고
    • Postprandial plasma-glucose and -insulin responses to different complex carbohydrates
    • Crapo PA, Reaven G, Olefsky J. Postprandial plasma-glucose and -insulin responses to different complex carbohydrates. Diabetes 1977; 26: 1178-83
    • (1977) Diabetes , vol.26 , pp. 1178-1183
    • Crapo, P.A.1    Reaven, G.2    Olefsky, J.3
  • 25
  • 26
    • 0031828025 scopus 로고    scopus 로고
    • Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
    • Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, et al. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J Med Genet 1998; 35: 650-6
    • (1998) J Med Genet , vol.35 , pp. 650-656
    • Sjarif, D.R.1    Sinke, R.J.2    Duran, M.3    Beemer, F.A.4    Kleijer, W.J.5    Ploos Van Amstel, J.K.6
  • 27
    • 0034043457 scopus 로고    scopus 로고
    • Five cases of isolated glycerol kinase deficiency, including two families: Failure to find genotype: Phenotype correlation
    • Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype: phenotype correlation. J Med Genet 2000; 37: 434-41
    • (2000) J Med Genet , vol.37 , pp. 434-441
    • Sargent, C.A.1    Kidd, A.2    Moore, S.3    Dean, J.4    Besley, G.T.5    Affara, N.A.6
  • 28
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: Lessons from phenylketonuria
    • Scriver CR, Waters PJ. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 1999; 15: 267-72
    • (1999) Trends Genet , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 29
    • 0034788710 scopus 로고    scopus 로고
    • Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
    • Dipple KM, Phelan JK, McCabe ER. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab 2001; 74: 45-50
    • (2001) Mol Genet Metab , vol.74 , pp. 45-50
    • Dipple, K.M.1    Phelan, J.K.2    McCabe, E.R.3
  • 32
    • 3042631796 scopus 로고    scopus 로고
    • Hypoglycemia
    • Behrman R, Kliegman MD, Jenson HD, editors. Philadelphia, PA: WB Saunders; Chapter 88
    • Sperling MA. Hypoglycemia. In: Behrman R, Kliegman MD, Jenson HD, editors. Nelson textbook of pediatrics. 16th ed. Philadelphia, PA: WB Saunders; 2001. Chapter 88
    • (2001) Nelson Textbook of Pediatrics. 16th Ed.
    • Sperling, M.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.