Author:
Laube Guido F.,Leonard James V.,van't Hoff William G.
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Robinson BH, Sherwood WG, Lampty M, Lowden JA (1976) 3-Methylglutaconic aciduria: a new disorder of leucine metabolism. Pediatr Res 10:371A
2. Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI (1993) Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 9:120–123
3. Gibson KM, Sherwood WG, Hoffmann GF, Stumpf DA, Dianzani I, Schutgens RBH, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, Verloes A, Narisawa K, Mino M, Ohya N, Kelley RI (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 118:885–890
4. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis P-A, Tonioli (1996) A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet 12:385–389
5. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H (1998) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39:595–597
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献