Clinical variability of isovaleric acidemia in a genetically homogeneous population
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-012-9457-2
Reference29 articles.
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2. De Sousa C, Chalmers RA, Stacey TE, Tracey BM, Weaver CM, Bradley D (1986) The response to L-carnitine and glycine therapy in isovaleric acidaemia. Eur J Pediatr 144:451–456
3. Duran M, Van Sprang FJ, Drewes JG, Bruinvis L, Ketting D, Wadman SK (1979) Two sisters with isovaleric acidaemia, multiple attacks of ketoasidosis and normal development. Eur J Pediatr 131:205–211
4. Duran M, Bruinvis L, Ketting D, Wadman SK, Van Pelt BC, Batenburg-Plenter AM (1982) Isovaleric acidaemia presenting with dwarfism, cataracts and congenital abnormalities. J Inher Metab Dis 5:125–127
5. Ensenauer R, Vockley J, Willard J et al (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136–1142
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