organic aciduria

(redirected from Ethylmalonic aciduria)
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organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.
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References in periodicals archive ?
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.
Both mutations contribute susceptibility to ethylmalonic aciduria but do not lead to clinically relevant SCAD deficiency (24).