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Volumn 67, Issue 8, 2006, Pages 1519-

Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis?

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE; RIBOFLAVIN;

EID: 33750285742     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240065.35635.a6     Document Type: Article
Times cited : (13)

References (7)
  • 1
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein: Ubiquinone oxidoreductase: glutaric aciduria type II
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Frerman FE, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein: ubiquinone oxidoreductase: glutaric aciduria type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 8th edition. New York: McGraw-Hill: 2357-2365.
    • The Metabolic and Molecular Basis of Inherited Disease, 8th Edition , pp. 2357-2365
    • Frerman, F.E.1    Goodman, S.I.2
  • 2
    • 0038046685 scopus 로고    scopus 로고
    • Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003;22:12-23.
    • (2003) Hum Mutat , vol.22 , pp. 12-23
    • Olsen, R.K.1    Andresen, B.S.2    Christensen, E.3    Bross, P.4    Skovby, F.5    Gregersen, N.6
  • 3
    • 0036396930 scopus 로고    scopus 로고
    • Glutaric academia type II: Gene structure and mutations of the electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) gene
    • Goodman SI, Binard R, Woontner M, Frerman FE. Glutaric academia type II: gene structure and mutations of the electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 2002;77:86-90.
    • (2002) Mol Genet Metab , vol.77 , pp. 86-90
    • Goodman, S.I.1    Binard, R.2    Woontner, M.3    Frerman, F.E.4
  • 4
    • 4644354417 scopus 로고    scopus 로고
    • Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Pourfarzam M, Morris AA, et al. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 2004;27:671-678.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 671-678
    • Olsen, R.K.1    Pourfarzam, M.2    Morris, A.A.3
  • 5
    • 0022639765 scopus 로고
    • Riboflavin-responsive lipid storage myopathy and glutaric aciduria type II of early adult onset
    • De Visser M, Scholte HR, Schutgens RB, et al. Riboflavin-responsive lipid storage myopathy and glutaric aciduria type II of early adult onset. Neurology 1986;36:367-372.
    • (1986) Neurology , vol.36 , pp. 367-372
    • De Visser, M.1    Scholte, H.R.2    Schutgens, R.B.3
  • 6
    • 0027948406 scopus 로고
    • Late-onset riboflavin-responsive myopathy with combined multiple acyl-coenzyme A dehydrogenase and respiratory chain deficiency
    • Antozzi C, Garavaglia B, Mora M, et al. Late-onset riboflavin-responsive myopathy with combined multiple acyl-coenzyme A dehydrogenase and respiratory chain deficiency. Neurology 1994;44:2153-2158.
    • (1994) Neurology , vol.44 , pp. 2153-2158
    • Antozzi, C.1    Garavaglia, B.2    Mora, M.3
  • 7
    • 0026528269 scopus 로고
    • Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case
    • Mongini T, Doriguzzi C, Palmucci L, et al. Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. Eur Neurol 1992;32:170-176.
    • (1992) Eur Neurol , vol.32 , pp. 170-176
    • Mongini, T.1    Doriguzzi, C.2    Palmucci, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.