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Volumn 31, Issue 3, 2004, Pages 218-221

Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis

Author keywords

[No Author keywords available]

Indexed keywords

ADIPIC ACID DERIVATIVE; CARNITINE; CREATINE KINASE; GLUTARIC ACID; HIPPURIC ACID DERIVATIVE; MALONIC ACID DERIVATIVE; PYRUVIC ACID; RIBOFLAVIN;

EID: 4544309073     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2004.02.015     Document Type: Article
Times cited : (18)

References (11)
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    • Przyrembel, H.1    Wendel, U.2    Becker, K.3
  • 2
    • 0026008153 scopus 로고
    • Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II
    • S. Yamaguchi, T. Oril, Y. Suzuki, K. Maeda, M. Oshima, T. Hashimoto Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II Pediatr Res 29 1991 60 63
    • (1991) Pediatr Res , vol.29 , pp. 60-63
    • Yamaguchi, S.1    Oril, T.2    Suzuki, Y.3    Maeda, K.4    Oshima, M.5    Hashimoto, T.6
  • 3
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    • Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle McGraw-Hill New York
    • F.E. Frerman, S.I. Goodman Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease, 8th ed 2001 McGraw-Hill New York 2357 2363
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, 8th Ed , pp. 2357-2363
    • Frerman, F.E.1    Goodman, S.I.2
  • 4
    • 0025938637 scopus 로고
    • Molecular characterization of variant -subunit of electron transfer flavoprotein in three patients with glutaric acidemia type 2 and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient
    • Y. Indo, R. Glassberg, I. Yokota, K. Tanaka Molecular characterization of variant -subunit of electron transfer flavoprotein in three patients with glutaric acidemia type 2 and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient Am J Hum Genet 49 1991 575 580
    • (1991) Am J Hum Genet , vol.49 , pp. 575-580
    • Indo, Y.1    Glassberg, R.2    Yokota, I.3    Tanaka, K.4
  • 5
    • 0036396930 scopus 로고    scopus 로고
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    • S.I. Goodman, R.J. Binard, M.R. Woontner, F.E. Frerman Glutaric acidemia type II Gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene Mol Genet Metab 77 2002 86 90
    • (2002) Mol Genet Metab , vol.77 , pp. 86-90
    • Goodman, S.I.1    Binard, R.J.2    Woontner, M.R.3    Frerman, F.E.4
  • 7
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    • Lipid storage myopathy due to glutaric aciduria type II: Treatment of a potentially fatal myopathy
    • D.M. Turnbull, K. Bartlett, J.A Eyre Lipid storage myopathy due to glutaric aciduria type II Treatment of a potentially fatal myopathy Dev Med Child Neurol 30 1988 667 672
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    • Turnbull, D.M.1    Bartlett, K.2    Eyre, J.A.3
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    • Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset
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    • (1986) Neurology , vol.36 , pp. 367-372
    • De Visser, M.1    Scholte, H.R.2    Schutgens, B.H.3
  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.