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Volumn 28, Issue 2, 2006, Pages 62-63

3-Methylglutaconic aciduria disorders: The clinical spectrum increases

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; 3 METHYLGLUTARYL COA HYDRATASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

EID: 33644614705     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mph.0000199602.35010.89     Document Type: Note
Times cited : (8)

References (11)
  • 1
    • 0027316215 scopus 로고
    • Multiple syndromes of 3-methylglutaconic aciduria
    • Gibson KM, Elpeleg ON, Jacobs C, et al. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol. 1993;9:120-123.
    • (1993) Pediatr Neurol , vol.9 , pp. 120-123
    • Gibson, K.M.1    Elpeleg, O.N.2    Jacobs, C.3
  • 2
    • 0025911004 scopus 로고
    • Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria
    • Gibson KM, Sherwood WG, Hoffmann GF, et al. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr. 1991;118:885-890.
    • (1991) J Pediatr , vol.118 , pp. 885-890
    • Gibson, K.M.1    Sherwood, W.G.2    Hoffmann, G.F.3
  • 3
    • 0031720878 scopus 로고    scopus 로고
    • Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
    • Gibson KM, Wappner RS, Jooste S, et al. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. J. Inher. Metab. Dis. 1998;21:631-638.
    • (1998) J Inher Metab Dis , vol.21 , pp. 631-638
    • Gibson, K.M.1    Wappner, R.S.2    Jooste, S.3
  • 4
    • 0036908780 scopus 로고    scopus 로고
    • 3-methylgutaconic aciduria type I is caused by mutations in AUH
    • Ijlst L, Loupatty FJ, Ruiter JPN, et al. 3-methylgutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002;71:1463-1466.
    • (2002) Am J Hum Genet , vol.71 , pp. 1463-1466
    • Ijlst, L.1    Loupatty, F.J.2    Ruiter, J.P.N.3
  • 5
    • 0037240025 scopus 로고    scopus 로고
    • Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
    • Ly TB, Peters V, Gibson KM, et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003;2:401-407.
    • (2003) Hum Mutat , vol.2 , pp. 401-407
    • Ly, T.B.1    Peters, V.2    Gibson, K.M.3
  • 6
    • 0029963145 scopus 로고    scopus 로고
    • A novel X-linked gene, G4.5, is responsible for Barth syndrome
    • Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet. 1996;12:385-389.
    • (1996) Nat Genet , vol.12 , pp. 385-389
    • Bione, S.1    D'Adamo, P.2    Maestrini, E.3
  • 7
    • 0030728921 scopus 로고    scopus 로고
    • Mutation characterization and genotype-phenotype correlation in Barth syndrome
    • Johnston J, Kelley RI, Feigenbaum A, et al. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 1997;61:1053-1058.
    • (1997) Am J Hum Genet , vol.61 , pp. 1053-1058
    • Johnston, J.1    Kelley, R.I.2    Feigenbaum, A.3
  • 8
    • 2142765298 scopus 로고    scopus 로고
    • X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
    • Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004;126:349-354.
    • (2004) Am J Med Genet A , vol.126 , pp. 349-354
    • Barth, P.G.1    Valianpour, F.2    Bowen, V.M.3
  • 9
    • 0035205389 scopus 로고    scopus 로고
    • Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
    • Anikster Y, Kleta K, Shaag A, et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218-1224.
    • (2001) Am J Hum Genet , vol.69 , pp. 1218-1224
    • Anikster, Y.1    Kleta, K.2    Shaag, A.3
  • 10
    • 18944391922 scopus 로고    scopus 로고
    • 3-methylglutaconic aciduria: A common biochemical marker in various syndromes with diverse clinical features
    • Gunay-Aygun M.3-methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol Genet Metab. 2005;84:1-3.
    • (2005) Mol Genet Metab , vol.84 , pp. 1-3
    • Gunay-Aygun, M.1
  • 11
    • 33644634873 scopus 로고    scopus 로고
    • Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
    • Aug 3; [E-pub ahead of print]
    • Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2005 Aug 3; [E-pub ahead of print].
    • (2005) J Med Genet
    • Davey, K.M.1    Parboosingh, J.S.2    McLeod, D.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.