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Volumn 34, Issue 2, 2006, Pages 156-159

Neuropathology of methylmalonic acidemia in a child

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CYANOCOBALAMIN; SINGLE STRANDED DNA; THIAMINE;

EID: 31944442114     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.07.006     Document Type: Article
Times cited : (27)

References (15)
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    • M.I. Shevell, N. Matiaszuk, F.D. Ledley, D.S. Rosenblatt Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency Am J Med Genet 45 1993 619 624
    • (1993) Am J Med Genet , vol.45 , pp. 619-624
    • Shevell, M.I.1    Matiaszuk, N.2    Ledley, F.D.3    Rosenblatt, D.S.4
  • 2
    • 0025606161 scopus 로고
    • Structure of the human methylmalonyl-CoA mutase (MUT) locus
    • S.U. Nham, M.F. Wilkemeyer, F.D. Ledley Structure of the human methylmalonyl-CoA mutase (MUT) locus Genomics 8 1990 710 716
    • (1990) Genomics , vol.8 , pp. 710-716
    • Nham, S.U.1    Wilkemeyer, M.F.2    Ledley, F.D.3
  • 3
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    • Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: Identification of five novel mutations
    • H.L. Peters, M. Nefedov, L.W. Lee Molecular studies in mutase-deficient (MUT) methylmalonic aciduria Identification of five novel mutations Hum Mutat 20 2002 406
    • (2002) Hum Mutat , vol.20 , pp. 406
    • Peters, H.L.1    Nefedov, M.2    Lee, L.W.3
  • 5
    • 0028040720 scopus 로고
    • CT and MR of the brain in disorders of the propionate and methylmalonate metabolism
    • J. Brismar, P.T. Ozand CT and MR of the brain in disorders of the propionate and methylmalonate metabolism Am J Neuroradiol 15 1994 1459 1473
    • (1994) Am J Neuroradiol , vol.15 , pp. 1459-1473
    • Brismar, J.1    Ozand, P.T.2
  • 7
    • 0027531837 scopus 로고
    • Selective death of immature neurons in methylmalonic acidemia of the neonate: A case report
    • J.M. Sum, J.L. Twiss, D.S. Horoupian Selective death of immature neurons in methylmalonic acidemia of the neonate A case report Acta Neuropathol (Berl) 85 1993 217 221
    • (1993) Acta Neuropathol (Berl) , vol.85 , pp. 217-221
    • Sum, J.M.1    Twiss, J.L.2    Horoupian, D.S.3
  • 8
    • 0016169197 scopus 로고
    • An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin: Pathological and neurochemical findings in one case
    • A.D. Dayan, R.B. Ramsey An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin Pathological and neurochemical findings in one case J Neurol Sci 23 1974 117 128
    • (1974) J Neurol Sci , vol.23 , pp. 117-128
    • Dayan, A.D.1    Ramsey, R.B.2
  • 10
    • 0021719616 scopus 로고
    • Cerebellar hemorrhage complicating methylmalonic and propionic acidemia
    • P. Dave, R.G. Curless, L. Steinman Cerebellar hemorrhage complicating methylmalonic and propionic acidemia Arch Neurol 41 1984 1293 1296
    • (1984) Arch Neurol , vol.41 , pp. 1293-1296
    • Dave, P.1    Curless, R.G.2    Steinman, L.3
  • 11
    • 0029069054 scopus 로고
    • Methylmalonic acidemia: Brain lesions in a case of vitamin B12 non-responsive (mut0) type
    • K. Yamaguchi, K. Hirabayashi, K. Honma Methylmalonic acidemia Brain lesions in a case of vitamin B12 non-responsive (mut0) type Clin Neuropathol 14 1995 216 222
    • (1995) Clin Neuropathol , vol.14 , pp. 216-222
    • Yamaguchi, K.1    Hirabayashi, K.2    Honma, K.3
  • 13
    • 0742271632 scopus 로고    scopus 로고
    • Sensitivity and specificity of different staining methods to monitor apoptosis induced by oxidative stress in adherent cells
    • J. Zhao, A. Schmid-Kotsas, H.J. Gross, A. Gruenert, M.G. Bachem Sensitivity and specificity of different staining methods to monitor apoptosis induced by oxidative stress in adherent cells Chin Med J (Engl) 116 2003 1923 1929
    • (2003) Chin Med J (Engl) , vol.116 , pp. 1923-1929
    • Zhao, J.1    Schmid-Kotsas, A.2    Gross, H.J.3    Gruenert, A.4    Bachem, M.G.5
  • 15
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    • Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.