Author:
Ryder B.,Moore F.,Mitchell A.,Thompson S.,Christodoulou J.,Balasubramaniam S.
Publisher
Springer Berlin Heidelberg
Reference22 articles.
1. Allegri G, Fernandes MJ, Scalco FB (2010) Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis 33(4):411–419
2. Baştuğ O, Kardaş F, Öztür MA et al (2014) A rare cause of opistotonus; fumaric aciduria: the first case presentation in Turkey. Turk Pediatri Ars 49(1):74–76
3. Bayley J-P, Launonen V, Tomlinson I (2008) The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumour syndrome and congenital fumarase deficiency. BMC Med Genet 9(20):1–98
4. Deschauer M, Gizatullina Z, Schulze A et al (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146–152
5. Ewbank C, Kerrigan JF, Aleck K (2013) Fumarate hydratase deficiency. In: Pagon RA, Adam MP, Ardinger HH et al (eds) Gene reviews. University of Washington, Seattle
Cited by
11 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