Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799345
Reference10 articles.
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2. Eastman CL, Guilarte TR (1991) Cytotoxicity of 3-hydroxykynurenine: implications for CNS damage in neonatal vitamin B6 deficiency.Adv Exp Med Biol 294: 625–629.
3. Fenton DA, Wilkinson JD, Toseland PA (1983) Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature. A new inborn error of tryptophan metabolism.J R Soc Med 76: 736–740.
4. Freese A, Swartz KJ, During MJ, Martin JB. Kynurenine metabolites of tryptophan: implications for neurological diseases.Neurology 40: 691–695.
5. Komrower GM, Wilson V, Clamp JR, Westall RG (1964) Hydroxykynreninuria.Arch Dis Child 39: 250–256.
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