메뉴 건너뛰기




Volumn 8, Issue 2, 2012, Pages 264-283

Metabolomics of urinary organic acids in respiratory chain deficiencies in children

Author keywords

Data reduction; Global metabolite profile; Metabolomics; Respiratory chain deficiencies; Urinary organic acids

Indexed keywords

CARBOXYLIC ACID;

EID: 84857794136     PISSN: 15733882     EISSN: 15733890     Source Type: Journal    
DOI: 10.1007/s11306-011-0309-0     Document Type: Article
Times cited : (63)

References (73)
  • 1
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson, S., Bankier, A. T., & Barrell, B. G. (1981). Sequence and organization of the human mitochondrial genome. Nature, 290, 457-465.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 2
    • 0037350844 scopus 로고    scopus 로고
    • Partial least squares for discrimination
    • Baker, M., & Rayens, W. (2003). Partial least squares for discrimination. Journal of Chemometrics, 17, 166-173.
    • (2003) Journal of Chemometrics , vol.17 , pp. 166-173
    • Baker, M.1    Rayens, W.2
  • 3
    • 77956935111 scopus 로고
    • Malate dehydrogenases
    • P. D. Boyer (Ed.), New York, San Francisco, London: Academic Press
    • Banaszak, L. J., & Bradshaw, R. A. (1975). Malate dehydrogenases. In P. D. Boyer (Ed.), The enzymes, 11 oxidation-reduction part A (pp. 369-396). New York, San Francisco, London: Academic Press.
    • (1975) The Enzymes, 11 Oxidation-Reduction Part A , pp. 369-396
    • Banaszak, L.J.1    Bradshaw, R.A.2
  • 4
    • 10644254418 scopus 로고    scopus 로고
    • Metabolomic approaches to mitochondrial disease: Correlation of urine organic acids
    • Barshop, B. A. (2004). Metabolomic approaches to mitochondrial disease: Correlation of urine organic acids. Mitochondrion, 4, 521-527.
    • (2004) Mitochondrion , vol.4 , pp. 521-527
    • Barshop, B.A.1
  • 6
    • 0019588210 scopus 로고
    • Demonstration of physical interactions between consecutive enzymes of the citric acid cycle and of the aspartate-malate shuttle
    • Beeckman, S., & Kanarek, L. (1981). Demonstration of physical interactions between consecutive enzymes of the citric acid cycle and of the aspartate-malate shuttle. European Journal of Biochemistry, 117, 527-535.
    • (1981) European Journal of Biochemistry , vol.117 , pp. 527-535
    • Beeckman, S.1    Kanarek, L.2
  • 7
    • 0027255176 scopus 로고
    • Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect
    • Bennett, M. J., Sherwood, W. G., Gibson, K. M., & Burlina, A. B. (1993). Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect. Journal of Inherited Metabolic Disease, 16, 560-562.
    • (1993) Journal of Inherited Metabolic Disease , vol.16 , pp. 560-562
    • Bennett, M.J.1    Sherwood, W.G.2    Gibson, K.M.3    Burlina, A.B.4
  • 8
    • 0028147894 scopus 로고
    • Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Bennett, M. J., Weinberger, M. J., Sherwood, W. G., & Burlina, A. B. (1994). Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 17, 283-286.
    • (1994) Journal of Inherited Metabolic Disease , vol.17 , pp. 283-286
    • Bennett, M.J.1    Weinberger, M.J.2    Sherwood, W.G.3    Burlina, A.B.4
  • 9
    • 0037069229 scopus 로고    scopus 로고
    • Diagnostic criteria for respiratory chain disorders in adults and children
    • Bernier, F. P., Boneh, A., Dennett, X., et al. (2002). Diagnostic criteria for respiratory chain disorders in adults and children. Neurology, 59, 1406-1411.
    • (2002) Neurology , vol.59 , pp. 1406-1411
    • Bernier, F.P.1    Boneh, A.2    Dennett, X.3
  • 10
    • 30744460897 scopus 로고    scopus 로고
    • Large-scale human metabolomics studies: A strategy for data (pre-) processing and validation
    • Bijlsma, S., Bobeldijk, I., Verheij, E. R., et al. (2006). Large-scale human metabolomics studies: A strategy for data (pre-) processing and validation. Analytical Chemistry, 78, 567-574.
    • (2006) Analytical Chemistry , vol.78 , pp. 567-574
    • Bijlsma, S.1    Bobeldijk, I.2    Verheij, E.R.3
  • 11
    • 33846968150 scopus 로고    scopus 로고
    • Supramolecular structure of the mitochondrial oxidative phosphorylated system
    • Boekema, E. J., & Braun, H.-P. (2007). Supramolecular structure of the mitochondrial oxidative phosphorylated system. Journal of Biological Chemistry, 282, 1-4.
    • (2007) Journal of Biological Chemistry , vol.282 , pp. 1-4
    • Boekema, E.J.1    Braun, H.-P.2
  • 12
    • 0023217214 scopus 로고
    • Equilibrium constants of several reactions involved in the fermentation of glutamate
    • Buckel, W., & Miller, S. L. (1987). Equilibrium constants of several reactions involved in the fermentation of glutamate. European Journal of Biochemistry, 164, 565-569.
    • (1987) European Journal of Biochemistry , vol.164 , pp. 565-569
    • Buckel, W.1    Miller, S.L.2
  • 15
    • 0027260368 scopus 로고
    • Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency
    • Christensen, E., Brandt, N. J., Schmalbruch, H., et al. (1993). Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 16, 553-556.
    • (1993) Journal of Inherited Metabolic Disease , vol.16 , pp. 553-556
    • Christensen, E.1    Brandt, N.J.2    Schmalbruch, H.3
  • 16
    • 0033917385 scopus 로고    scopus 로고
    • Mutations in mtDNA: Are we scraping the bottom of the barrel?
    • DiMauro, S., & Andreu, A. L. (2000). Mutations in mtDNA: Are we scraping the bottom of the barrel? Brain Pathology, 10, 431-441.
    • (2000) Brain Pathology , vol.10 , pp. 431-441
    • Dimauro, S.1    Andreu, A.L.2
  • 17
    • 57049094966 scopus 로고    scopus 로고
    • The higher level of organization of the oxidative phosphorylation system: Mitochondrial supercomplexes
    • Dudkina, N. V., Sunderhaus, S., Boekema, E. J., & Braun, H.-P. (2008). The higher level of organization of the oxidative phosphorylation system: Mitochondrial supercomplexes. Journal of Bioenergetics and Biomembranes, 40, 419-424.
    • (2008) Journal of Bioenergetics and Biomembranes , vol.40 , pp. 419-424
    • Dudkina, N.V.1    Sunderhaus, S.2    Boekema, E.J.3    Braun, H.-P.4
  • 18
    • 16244402990 scopus 로고    scopus 로고
    • Metabolomics: Current analytical platforms and methodologies
    • Dunn, W. B., & Ellis, D. I. (2005). Metabolomics: Current analytical platforms and methodologies. Trends in Analytical Chemistry, 24, 285-294.
    • (2005) Trends in Analytical Chemistry , vol.24 , pp. 285-294
    • Dunn, W.B.1    Ellis, D.I.2
  • 19
    • 0347813120 scopus 로고    scopus 로고
    • Disorders of mitochondrial fatty acid oxidation
    • In N. Blau, M. Duran, & M. E. Blaskovics (Eds.), (Revised 2nd ed.). Heidelberg: Springer
    • Duran, M. (2005). Disorders of mitochondrial fatty acid oxidation. In N. Blau, M. Duran, & M. E. Blaskovics (Eds.), Physician's guide to the laboratory diagnosis of metabolic diseases (Revised 2nd ed., pp. 309-334). Heidelberg: Springer.
    • (2005) Physician's guide to the laboratory diagnosis of metabolic diseases , pp. 309-334
    • Duran, M.1
  • 20
    • 0019980321 scopus 로고
    • Inherited 3-methylglutaconic aciduria in two brothers-another defect of leucine metabolism
    • Duran, M., Beemer, F. A., Tibosch, A. S., et al. (1982). Inherited 3-methylglutaconic aciduria in two brothers-another defect of leucine metabolism. Journal of Pediatrics, 101, 551-554.
    • (1982) Journal of Pediatrics , vol.101 , pp. 551-554
    • Duran, M.1    Beemer, F.A.2    Tibosch, A.S.3
  • 22
    • 35448968480 scopus 로고    scopus 로고
    • Practical significance (effect sizes) versus or in combination with statistical significance (p-values)
    • Ellis, S. M., & Steyn, H. S. (2003). Practical significance (effect sizes) versus or in combination with statistical significance (p-values). Management Dynamics, 12, 51-53.
    • (2003) Management Dynamics , vol.12 , pp. 51-53
    • Ellis, S.M.1    Steyn, H.S.2
  • 23
    • 0033943231 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    • Enns, G. M., Bennett, M. J., Hoppel, C. L., et al. (2000). Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Journal of Pediatrics, 136, 251-254.
    • (2000) Journal of Pediatrics , vol.136 , pp. 251-254
    • Enns, G.M.1    Bennett, M.J.2    Hoppel, C.L.3
  • 25
    • 25444504269 scopus 로고    scopus 로고
    • Secondary metabolic effects in complex I deficiency
    • Esteitie, N., Hinttala, R., Wibom, R., et al. (2005). Secondary metabolic effects in complex I deficiency. Annals of Neurology, 58, 544-552.
    • (2005) Annals of Neurology , vol.58 , pp. 544-552
    • Esteitie, N.1    Hinttala, R.2    Wibom, R.3
  • 26
    • 15444367219 scopus 로고    scopus 로고
    • Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanol-CoA lyase
    • Foulon, V., Sniekers, M., Huysmans, E., et al. (2005). Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanol-CoA lyase. Journal of Biological Chemistry, 280, 9802-9812.
    • (2005) Journal of Biological Chemistry , vol.280 , pp. 9802-9812
    • Foulon, V.1    Sniekers, M.2    Huysmans, E.3
  • 28
    • 34748839546 scopus 로고    scopus 로고
    • Proposed minimum reporting standards for data analysis in metabolomics
    • Goodacre, R., Broadhurst, D., Smilde, A. K., et al. (2007). Proposed minimum reporting standards for data analysis in metabolomics. Metabolomics, 3, 231-241.
    • (2007) Metabolomics , vol.3 , pp. 231-241
    • Goodacre, R.1    Broadhurst, D.2    Smilde, A.K.3
  • 29
    • 33644662109 scopus 로고    scopus 로고
    • Glutaric aciduria types I and II
    • Gordon, N. (2006). Glutaric aciduria types I and II. Brain and Development, 28, 136-140.
    • (2006) Brain and Development , vol.28 , pp. 136-140
    • Gordon, N.1
  • 30
    • 41949098832 scopus 로고    scopus 로고
    • The in-depth evaluation of suspected mitochondrial disease
    • Haas, R. H., Parikh, S., Falk, M. J., et al. (2008). The in-depth evaluation of suspected mitochondrial disease. Molecular Genetics and Metabolism, 94, 16-37.
    • (2008) Molecular Genetics and Metabolism , vol.94 , pp. 16-37
    • Haas, R.H.1    Parikh, S.2    Falk, M.J.3
  • 32
    • 84857791752 scopus 로고    scopus 로고
    • HMDB, Retrieved Oct 23, 2010 from
    • HMDB. (2010). Human metabolome database, Version 2. 5. Retrieved Oct 23, 2010 from http://www. hmdb. ca.
    • (2010) Human metabolome database, Version 2.5
  • 33
    • 0345930496 scopus 로고    scopus 로고
    • Organic acid analysis
    • Revised 2th edn., N. Blau, M. Duran, and M. E. Blaskovics (Eds.), Heidelberg: Springer
    • Hoffman, G. F., & Feyh, P. (2005). Organic acid analysis. In N. Blau, M. Duran, & M. E. Blaskovics (Eds.), Physician's guide to the laboratory diagnosis of metabolic diseases (Revised 2 ed., pp. 27-44). Heidelberg: Springer.
    • (2005) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases , pp. 27-44
    • Hoffman, G.F.1    Feyh, P.2
  • 34
    • 15844414869 scopus 로고    scopus 로고
    • Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
    • Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G., & Chomyn, A. (1996). Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. Journal of Biological chemistry, 271, 13155-13161.
    • (1996) Journal of Biological Chemistry , vol.271 , pp. 13155-13161
    • Hofhaus, G.1    Johns, D.R.2    Hurko, O.3    Attardi, G.4    Chomyn, A.5
  • 35
    • 34147196228 scopus 로고    scopus 로고
    • Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts
    • Janssen, A. J. M., Trijbels, F. J. M., Sengers, R. C. A., et al. (2007). Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clinical Chemistry, 53, 729-734.
    • (2007) Clinical Chemistry , vol.53 , pp. 729-734
    • Janssen, A.J.M.1    Trijbels, F.J.M.2    Sengers, R.C.A.3
  • 37
    • 0028962003 scopus 로고
    • 3-methylglutaconic acidaemia in Smith-Lemli-Opitz syndrome
    • Kelley, R. I., & Kratz, L. (1995). 3-methylglutaconic acidaemia in Smith-Lemli-Opitz syndrome. Pediatric Research, 37, 671-674.
    • (1995) Pediatric Research , vol.37 , pp. 671-674
    • Kelley, R.I.1    Kratz, L.2
  • 38
    • 0035283048 scopus 로고    scopus 로고
    • Theoretical studies on the regulation of oxidative phosphorylation in intact tissues
    • Korzeniewski, B. (2001). Theoretical studies on the regulation of oxidative phosphorylation in intact tissues. Biochimica et Biophysica Acta, 1504, 31-45.
    • (2001) Biochimica Et Biophysica Acta , vol.1504 , pp. 31-45
    • Korzeniewski, B.1
  • 39
    • 0036229938 scopus 로고    scopus 로고
    • Metabolic, nutritional, latrogenic, and artifactual sources of urinary organic acids: a comprehensive table
    • Kumps, A., Duez, P., & Mardens, Y. (2002). Metabolic, nutritional, latrogenic, and artifactual sources of urinary organic acids: A comprehensive table. Clinical Chemistry, 48, 708-717.
    • (2002) Clinical Chemistry , vol.48 , pp. 708-717
    • Kumps, A.1    Duez, P.2    Mardens, Y.3
  • 40
    • 0028866072 scopus 로고
    • Therapy of complex I deficiency: Peripheral neuropathy during dichloroacetate theraby
    • Kurlemann, G., Paetzke, I., Möller, H., et al. (1995). Therapy of complex I deficiency: Peripheral neuropathy during dichloroacetate theraby. European Journal of Pediatrics, 154, 928-932.
    • (1995) European Journal of Pediatrics , vol.154 , pp. 928-932
    • Kurlemann, G.1    Paetzke, I.2    Möller, H.3
  • 41
    • 0342313509 scopus 로고    scopus 로고
    • Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency
    • Kuwertz-Bröking, E., Koch, H. G., Marquardt, T., et al. (2000). Renal Fanconi syndrome: First sign of partial respiratory chain complex IV deficiency. Pediatric Nephrology, 14, 495-498.
    • (2000) Pediatric Nephrology , vol.14 , pp. 495-498
    • Kuwertz-Bröking, E.1    Koch, H.G.2    Marquardt, T.3
  • 42
    • 13444257744 scopus 로고    scopus 로고
    • Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
    • Lalani, S. R., Vladutiu, G. D., Plunkett, K., et al. (2005). Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Archives of Neurology, 62, 317-320.
    • (2005) Archives of Neurology , vol.62 , pp. 317-320
    • Lalani, S.R.1    Vladutiu, G.D.2    Plunkett, K.3
  • 43
    • 79251595354 scopus 로고    scopus 로고
    • The role of metabolites and metabolomics in clinically applicable biomarkers of disease
    • Mamas, M., Dunn, W. B., Neyses, L., & Goodacre, R. (2011). The role of metabolites and metabolomics in clinically applicable biomarkers of disease. Archives of Toxicology, 85, 5-17.
    • (2011) Archives of Toxicology , vol.85 , pp. 5-17
    • Mamas, M.1    Dunn, W.B.2    Neyses, L.3    Goodacre, R.4
  • 44
    • 73249119723 scopus 로고    scopus 로고
    • Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker
    • Mancuso, M., Orsucci, D., Coppedè, F., et al. (2009). Diagnostic approach to mitochondrial disorders: The need for a reliable biomarker. Current Molecular Medicine, 9, 1095-1107.
    • (2009) Current Molecular Medicine , vol.9 , pp. 1095-1107
    • Mancuso, M.1    Orsucci, D.2    Coppedè, F.3
  • 45
    • 0035282929 scopus 로고    scopus 로고
    • What do mitochondrial diseases teach us about normal mitochondrial functions... that we already knew: threshold expression of mitochondrial defects
    • Mazat, J.-P., Rossignol, R., Malgat, M., et al. (2001). What do mitochondrial diseases teach us about normal mitochondrial functions... that we already knew: Threshold expression of mitochondrial defects. Biochimica et Biophysica Acta, 1504, 20-30.
    • (2001) Biochimica Et Biophysica Acta , vol.1504 , pp. 20-30
    • Mazat, J.-P.1    Rossignol, R.2    Malgat, M.3
  • 47
    • 33845444330 scopus 로고    scopus 로고
    • Mitochondrial disease criteria: Diagnostic application in children
    • Morava, E., van den Heuvel, L., Hol, F., et al. (2006). Mitochondrial disease criteria: Diagnostic application in children. Neurology, 26, 1823-1826.
    • (2006) Neurology , vol.26 , pp. 1823-1826
    • Morava, E.1    van den Heuvel, L.2    Hol, F.3
  • 48
    • 33847327365 scopus 로고    scopus 로고
    • Benchmarks for the assessment of novel cardiovascular biomarkers
    • Morrow, D. A., & de Lemos, J. A. (2007). Benchmarks for the assessment of novel cardiovascular biomarkers. Circulation, 115, 949-952.
    • (2007) Circulation , vol.115 , pp. 949-952
    • Morrow, D.A.1    de Lemos, J.A.2
  • 50
    • 0035917865 scopus 로고    scopus 로고
    • Cooperation and competition in the evolution of ATP-producing pathways
    • Pfeiffer, T., Schuster, S., & Bonhoeffer, S. (2001). Cooperation and competition in the evolution of ATP-producing pathways. Science, 292, 504-507.
    • (2001) Science , vol.292 , pp. 504-507
    • Pfeiffer, T.1    Schuster, S.2    Bonhoeffer, S.3
  • 51
    • 7344261883 scopus 로고    scopus 로고
    • Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
    • Rabier, D., Diry, C., Rotig, A., et al. (1998). Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? Journal of Inherited Metabolic Disorder, 21, 216-219.
    • (1998) Journal of Inherited Metabolic Disorder , vol.21 , pp. 216-219
    • Rabier, D.1    Diry, C.2    Rotig, A.3
  • 52
    • 0029985716 scopus 로고    scopus 로고
    • Leigh syndrome: clinical features and biochemical and DNA abnormalities
    • Rahman, S., Blok, R. B., Dahl, H. H., et al. (1996). Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Annals of Neurology, 39, 343-351.
    • (1996) Annals of Neurology , vol.39 , pp. 343-351
    • Rahman, S.1    Blok, R.B.2    Dahl, H.H.3
  • 53
    • 0024343309 scopus 로고
    • Females' emotionality as reflected in the excretion of the dopamine metabolite HVA during mental stress
    • Rauste-von Wright, M., & Frankenhaeuser, M. (1989). Females' emotionality as reflected in the excretion of the dopamine metabolite HVA during mental stress. Psychological Reports, 64, 856-858.
    • (1989) Psychological Reports , vol.64 , pp. 856-858
    • Rauste-von Wright, M.1    Frankenhaeuser, M.2
  • 54
    • 0023709196 scopus 로고
    • Metabolic control: A structural approach
    • Reder, C. (1988). Metabolic control: A structural approach. Journal of Theoretical Biology, 135, 175-201.
    • (1988) Journal of Theoretical Biology , vol.135 , pp. 175-201
    • Reder, C.1
  • 57
    • 10044239247 scopus 로고    scopus 로고
    • A gene encoding a putative FAD-dependent l-2-hydroxygluterate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria
    • Rzem, R., Veiga-da-Cunha, M., Noël, G., et al. (2004). A gene encoding a putative FAD-dependent l-2-hydroxygluterate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria. Proceedings of the National Academy of Sciences USA, 101, 16849-16854.
    • (2004) Proceedings of the National Academy of Sciences USA , vol.101 , pp. 16849-16854
    • Rzem, R.1    Veiga-da-Cunha, M.2    Noël, G.3
  • 58
    • 0036557977 scopus 로고    scopus 로고
    • Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms
    • Shah, N. S., Mitchell, W. G., & Boles, R. G. (2002). Mitochondrial disorders: A potentially under-recognized etiology of infantile spasms. Journal of Child Neurology, 17, 369-372.
    • (2002) Journal of Child Neurology , vol.17 , pp. 369-372
    • Shah, N.S.1    Mitchell, W.G.2    Boles, R.G.3
  • 59
    • 0014578265 scopus 로고
    • The kinetic properties of citrate synthase from rat liver mitochondria
    • Shepherd, D., & Garland, P. B. (1969). The kinetic properties of citrate synthase from rat liver mitochondria. Biochemistry Journal, 114, 597-610.
    • (1969) Biochemistry Journal , vol.114 , pp. 597-610
    • Shepherd, D.1    Garland, P.B.2
  • 60
    • 0038380689 scopus 로고    scopus 로고
    • Mitochondrial disorders: Clinical presentation and diagnostic dilemmas
    • Smeitink, J. (2003). Mitochondrial disorders: Clinical presentation and diagnostic dilemmas. Journal of Inherited Metabolic Disease, 26, 199-207.
    • (2003) Journal of Inherited Metabolic Disease , vol.26 , pp. 199-207
    • Smeitink, J.1
  • 61
    • 33645052713 scopus 로고    scopus 로고
    • Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphoryation disorders
    • Smeitink, J., Zeviani, M., Turnbull, D. M., & Jacobs, H. (2006). Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphoryation disorders. Cellular Metabolism, 3, 9-13.
    • (2006) Cellular Metabolism , vol.3 , pp. 9-13
    • Smeitink, J.1    Zeviani, M.2    Turnbull, D.M.3    Jacobs, H.4
  • 63
    • 33845198305 scopus 로고    scopus 로고
    • Deficiency of mitochondrial ATP synthase of nuclear genetic origin
    • Sperl, W., Jesina, P., Zeman, J., et al. (2006). Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscular Disorders, 16, 821-829.
    • (2006) Neuromuscular Disorders , vol.16 , pp. 821-829
    • Sperl, W.1    Jesina, P.2    Zeman, J.3
  • 64
    • 79955701172 scopus 로고    scopus 로고
    • Biomarkers for mitochondrial respiratory chain disorders
    • doi: 10. 1007/s10545-010-9222-3
    • Suomalainen, A. (2010). Biomarkers for mitochondrial respiratory chain disorders. Journal of Inherited Metabolic Disease. doi: 10. 1007/s10545-010-9222-3.
    • (2010) Journal of Inherited Metabolic Disease
    • Suomalainen, A.1
  • 65
    • 0003237157 scopus 로고    scopus 로고
    • Branched chain organic acidurias
    • 2nd edn., C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (Eds.), New York: The McGraw-Hill Companies
    • Sweetman, L., & Williams, J. C. (2001). Branched chain organic acidurias. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease (2nd ed., Vol. 8, pp. 2125-2163). New York: The McGraw-Hill Companies.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.8 , pp. 2125-2163
    • Sweetman, L.1    Williams, J.C.2
  • 66
    • 62749183625 scopus 로고    scopus 로고
    • Two new cases with Pearson syndrome and review of Hacettepe experience
    • Topaloǧlu, R., Lebre, A. S., Demirkaya, E., et al. (2008). Two new cases with Pearson syndrome and review of Hacettepe experience. Turkish Journal of Pediatrics, 50, 572-576.
    • (2008) Turkish Journal of Pediatrics , vol.50 , pp. 572-576
    • Topaloǧlu, R.1    Lebre, A.S.2    Demirkaya, E.3
  • 67
    • 9444299151 scopus 로고    scopus 로고
    • l-2-Hydroxyglutaric aciduria: Identification of a mutant gene Ci4orf160, localized on chromosome 14q22.1
    • Topçu, M., Jobard, F., Halliez, S., et al. (2004). l-2-Hydroxyglutaric aciduria: Identification of a mutant gene Ci4orf160, localized on chromosome 14q22. 1. Human Molecular Genetics, 13, 2803-2811.
    • (2004) Human Molecular Genetics , vol.13 , pp. 2803-2811
    • Topçu, M.1    Jobard, F.2    Halliez, S.3
  • 68
    • 0021403188 scopus 로고
    • Derivatives of methanopterin, a coenzyme involved in methanogenesis
    • van Beelen, P., Labro, J. F., Keltjens, J. T., et al. (1984). Derivatives of methanopterin, a coenzyme involved in methanogenesis. European Journal of Biochemistry, 139, 359-365.
    • (1984) European Journal of Biochemistry , vol.139 , pp. 359-365
    • van Beelen, P.1    Labro, J.F.2    Keltjens, J.T.3
  • 70
    • 33847031295 scopus 로고    scopus 로고
    • Superoxide production is inversely related to complex I activity in inherited complex I deficiency
    • Verkaart, S., Koopman, W. J. H., Sjenet, E., et al. (2007). Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochimica et Biophysica Acta, 1772, 373-381.
    • (2007) Biochimica Et Biophysica Acta , vol.1772 , pp. 373-381
    • Verkaart, S.1    Koopman, W.J.H.2    Sjenet, E.3
  • 72
    • 0037069274 scopus 로고    scopus 로고
    • Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children
    • Wolf, N. I., & Smeitink, J. A. M. (2002). Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children. Neurology, 59, 1402-1405.
    • (2002) Neurology , vol.59 , pp. 1402-1405
    • Wolf, N.I.1    Smeitink, J.A.M.2
  • 73
    • 33646024913 scopus 로고    scopus 로고
    • Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
    • Wortmann, S., Rodenburg, R. J., Huizing, M., et al. (2005). Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Molecular Genetics and Metabolism, 88, 47-52.
    • (2005) Molecular Genetics and Metabolism , vol.88 , pp. 47-52
    • Wortmann, S.1    Rodenburg, R.J.2    Huizing, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.