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- W2016193590 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.521 C>G (p.P174R) and c.908 T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria." @default.
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- W2016193590 date "2012-09-01" @default.
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- W2016193590 title "Mild fumarase deficiency and a trial of low protein diet" @default.
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- W2016193590 doi "https://doi.org/10.1016/j.ymgme.2012.04.010" @default.
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