| Literature DB >> 22595425 |
V E Kimonis1, J Steller, I Sahai, D K Grange, J Shoemaker, B M Zelaya, R Mandell, K Shih, V Shih.
Abstract
We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.Entities:
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Year: 2012 PMID： 22595425 DOI： 10.1016/j.ymgme.2012.04.010
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797