3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799632
Reference17 articles.
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2. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.Neurology 39: 595–597
3. 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
4. Gibson KM, Nyhan WL, Sweetman L et al (1988) 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.Eur J Pediatr 148: 76–82
5. Gibson KM, Sherwood WG, Hoffman GF et al (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.J Pediatr 118: 885–890
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