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Volumn 213, Issue 4, 2007, Pages 351-359

Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency

Author keywords

Acylcarnitine profiles; Carnitine; Fasting test; HPLC MS MS; Medium chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACETYLCARNITINE; ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BICARBONATE; CARBOXYLIC ACID; CARNITINE; CARNITINE DERIVATIVE; DECANOYLCARNITINE; GLUCOSE; HYDROCORTISONE; LACTATE DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; N OCTANOYLCARNITINE; UNCLASSIFIED DRUG; VALPROLYLCARNITINE;

EID: 38049134620     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.213.351     Document Type: Article
Times cited : (11)

References (17)
  • 2
    • 0030664016 scopus 로고    scopus 로고
    • Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
    • Chace, D.H., Hillman, S.L., Van Hove, J.L. & Naylor, E.W. (1997) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin. Chem., 43, 2106-2111.
    • (1997) Clin. Chem , vol.43 , pp. 2106-2111
    • Chace, D.H.1    Hillman, S.L.2    Van Hove, J.L.3    Naylor, E.W.4
  • 3
    • 33646918012 scopus 로고    scopus 로고
    • The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcouse
    • Derks, T.G., Reingoud, D.J., Waterham, H.R., Gerver, W.J., van den Berg, M.P., Sauer, P.J. & Smit, G.P. (2006) The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcouse. J. Pediatr., 148, 665-1670.
    • (2006) J. Pediatr , vol.148 , pp. 665-1670
    • Derks, T.G.1    Reingoud, D.J.2    Waterham, H.R.3    Gerver, W.J.4    van den Berg, M.P.5    Sauer, P.J.6    Smit, G.P.7
  • 4
    • 20444505209 scopus 로고    scopus 로고
    • Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification
    • Ensenauer, R., Winters, J.L., Parton, P.A., Kronn, D.F., Kim, J.W., Matem, D., Rinaldo.. P. & Hahn, S.H. (2005) Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification. Gene. Med., 7, 339-342.
    • (2005) Gene. Med , vol.7 , pp. 339-342
    • Ensenauer, R.1    Winters, J.L.2    Parton, P.A.3    Kronn, D.F.4    Kim, J.W.5    Matem, D.6    Rinaldo, P.7    Hahn, S.H.8
  • 5
    • 0028265830 scopus 로고
    • Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
    • Iafolla, A.K., Thompson, R.J., Jr. & Roe, C.R. (1994) Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J. Pediatr., 12A, 409-415.
    • (1994) J. Pediatr , vol.12 A , pp. 409-415
    • Iafolla, A.K.1    Thompson Jr., R.J.2    Roe, C.R.3
  • 6
    • 33847391557 scopus 로고    scopus 로고
    • Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry
    • Maeda, Y., Ito, T., Suzuki, A., Kurono, Y., Ueta, A., Yokoi, K., Sumi, S., Togari, H. & Sugiyama, N. (2007) Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry. Rapid, Commun. Mass. Spectrom., 21, 799-806.
    • (2007) Rapid, Commun. Mass. Spectrom , vol.21 , pp. 799-806
    • Maeda, Y.1    Ito, T.2    Suzuki, A.3    Kurono, Y.4    Ueta, A.5    Yokoi, K.6    Sumi, S.7    Togari, H.8    Sugiyama, N.9
  • 7
    • 0024553353 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency
    • Millington, D.S. & Roe, C.R. (1989) Medium-chain acyl-CoA dehydrogenase deficiency. N. Engl. J. Med., 320, 1219.
    • (1989) N. Engl. J. Med , vol.320 , pp. 1219
    • Millington, D.S.1    Roe, C.R.2
  • 8
    • 0027408978 scopus 로고
    • Effect of treatment with glycine and L-carnitine in medium-chain acylcoenzyme A dehydrogenase efficiency
    • Rinaldo, P., Schmidt-Sommereld, E., Posca, A.P., Heales, S.J.R., Woolf, D.A. & Leonard, J.V. (1993) Effect of treatment with glycine and L-carnitine in medium-chain acylcoenzyme A dehydrogenase efficiency. J. Pediatr., 122, 580-584.
    • (1993) J. Pediatr , vol.122 , pp. 580-584
    • Rinaldo, P.1    Schmidt-Sommereld, E.2    Posca, A.P.3    Heales, S.J.R.4    Woolf, D.A.5    Leonard, J.V.6
  • 9
    • 0000044868 scopus 로고    scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • edited by C.R. Scriver, A.L. Beaudet. W.S. Sly & D. Valle, McGraw-Hill, Now York, pp
    • Roe, C.R. & Ding, J. (2001) Mitochondrial fatty acid oxidation disorders. In: The Metabolic and Molecular Basis of inherited Disease, edited by C.R. Scriver, A.L. Beaudet. W.S. Sly & D. Valle, McGraw-Hill, Now York, pp. 2311-2317.
    • (2001) The Metabolic and Molecular Basis of inherited Disease , pp. 2311-2317
    • Roe, C.R.1    Ding, J.2
  • 10
    • 0037173957 scopus 로고    scopus 로고
    • Tajima, T. & Yamaguchi, S. (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J. Chromatogr. B, 776, 39-48.
    • Tajima, T. & Yamaguchi, S. (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J. Chromatogr. B, 776, 39-48.
  • 11
    • 0036884407 scopus 로고    scopus 로고
    • Management of fatty acid oxidation disorders: A survey of current treatment strategies
    • Solis, J.O. & Singh, R.H. (2002). Management of fatty acid oxidation disorders: A survey of current treatment strategies. J. Am Diet. Assoc., 102, 1800-1803.
    • (2002) J. Am Diet. Assoc , vol.102 , pp. 1800-1803
    • Solis, J.O.1    Singh, R.H.2
  • 12
  • 13
    • 23644437131 scopus 로고    scopus 로고
    • Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tamdem mass spectrometry newborn screening in Japan
    • Tajima, G., Sakura, N., Yofune, H., Nishimura, Y., Ono, H., Hasegawa, Y., Hata, I., Kimura, M., Yamaguchi, S., Shigematsu, Y. & Kobayashi, V. (2005) Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tamdem mass spectrometry newborn screening in Japan. J. Chromatogr. B, 823, 122-130.
    • (2005) J. Chromatogr. B , vol.823 , pp. 122-130
    • Tajima, G.1    Sakura, N.2    Yofune, H.3    Nishimura, Y.4    Ono, H.5    Hasegawa, Y.6    Hata, I.7    Kimura, M.8    Yamaguchi, S.9    Shigematsu, Y.10    Kobayashi, V.11
  • 14
    • 0024336465 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation
    • Treem, W.R., Stanley, C.A. & Goodman, S.I. (1989) Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. J. Inherit. Metab. Dis., 12, 112-119.
    • (1989) J. Inherit. Metab. Dis , vol.12 , pp. 112-119
    • Treem, W.R.1    Stanley, C.A.2    Goodman, S.I.3
  • 16
    • 0038042475 scopus 로고    scopus 로고
    • L-Carnitine in inborn errors of metabolism: What is the evidence?
    • Walter, J.H. (2003) L-Carnitine in inborn errors of metabolism: What is the evidence? J. Inherit. Metab. Dis., 26, 181-188.
    • (2003) J. Inherit. Metab. Dis , vol.26 , pp. 181-188
    • Walter, J.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.