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Volumn 22, Issue 1, 1999, Pages 1-8

3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTACONYL COA HYDRATASE; HYDROLYASE; LEUCINE; UNCLASSIFIED DRUG;

EID: 0033021310     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005421111554     Document Type: Article
Times cited : (16)

References (11)
  • 1
    • 0028564681 scopus 로고
    • 3-Methylglutaconic aciduria: Ten new cases with a possible new phenotype
    • Aqeel AAl, Rashed M, Ozand PT, et al (1994) 3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. Brain Dev 16 (supplement): 23-32.
    • (1994) Brain Dev , vol.16 , Issue.SUPPL. , pp. 23-32
    • Aqeel, A.Al.1    Rashed, M.2    Ozand, P.T.3
  • 2
    • 0026600573 scopus 로고
    • 3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('Type 4')
    • Chitayat D, Chemke J, Gibson KM, et al (1992) 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('Type 4'). J Inher Metab Dis 15: 204-212.
    • (1992) J Inher Metab Dis , vol.15 , pp. 204-212
    • Chitayat, D.1    Chemke, J.2    Gibson, K.M.3
  • 3
    • 0019980321 scopus 로고
    • Inherited 3-methylglutaconic aciduria in two brothers - Another defect of leucine metabolism
    • Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK (1982) Inherited 3-methylglutaconic aciduria in two brothers - another defect of leucine metabolism. J Pediatr 101: 551-554.
    • (1982) J Pediatr , vol.101 , pp. 551-554
    • Duran, M.1    Beemer, F.A.2    Tibosch, A.S.3    Bruinvis, L.4    Ketting, D.5    Wadman, S.K.6
  • 4
    • 0025037971 scopus 로고
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases
    • Gibson KM, Lee CF, Kamali V, et al (1990) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clin Chem. 36: 297-303.
    • (1990) Clin Chem , vol.36 , pp. 297-303
    • Gibson, K.M.1    Lee, C.F.2    Kamali, V.3
  • 5
    • 0025911004 scopus 로고
    • Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria
    • Gibson KM, Sherwood WG, Hoffman GF, et al (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 188: 885-890.
    • (1991) J Pediatr , vol.188 , pp. 885-890
    • Gibson, K.M.1    Sherwood, W.G.2    Hoffman, G.F.3
  • 6
    • 0026780994 scopus 로고
    • 3-Methylglutaconyl-coenzyme-a hydratase deficiency: A new case
    • Gibson KM, Lee CF, Wappner RS (1992) 3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case. J Inher Metab Dis 15: 363-366.
    • (1992) J Inher Metab Dis , vol.15 , pp. 363-366
    • Gibson, K.M.1    Lee, C.F.2    Wappner, R.S.3
  • 8
    • 0028828319 scopus 로고
    • 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy
    • Hou JW, Wang TR (1995) 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. J Inher Metab Dis 18: 645-646.
    • (1995) J Inher Metab Dis , vol.18 , pp. 645-646
    • Hou, J.W.1    Wang, T.R.2
  • 9
    • 0024448817 scopus 로고
    • 3-Methylglutaconyl-Coa hydratase, 3-methylcrotonyl-Coa carboxylase and 3-hydroxy-3-methylglutaryl-Coa lyase deficiencies: A coupled enzyme assay useful for their detection
    • Narisawa K, Gibson KM, Sweetman L, Nyhan WL (1989) 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. Clin Chim Acta 184: 57-64.
    • (1989) Clin Chim Acta , vol.184 , pp. 57-64
    • Narisawa, K.1    Gibson, K.M.2    Sweetman, L.3    Nyhan, W.L.4
  • 11
    • 0002561443 scopus 로고
    • Branched chain organic acidurias
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Sweetman L, Williams JC (1995) Branched chain organic acidurias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn, vol. 1. New York: McGraw-Hill, 1387-1422.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn , vol.1 , pp. 1387-1422
    • Sweetman, L.1    Williams, J.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.