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These biochemical approaches offer a functional analysis of G6PD deficiency, but are often difficult to interpret, especially for mosaic female heterozygotes, who may also haemolyse following treatment with 8-aminoquinolines

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reported one patient with 3-methylglutaric aciduria displayed thinning of the corpus callosum, enlarged lateral and third ventricles, and basal ganglia atrophy in cranial MRI