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- W2057150036 abstract "hre e children (tw o girls] age d four, six an tw years with typ I glutaric aciduria ar described. Their develop-men' was norrral until the second half of tne first year of life, when they had acute diarrhea, acidosis, coma andseizures. Afterwards they losf acquired mental ana motor abilities and showed abnormal movements, particularlydystonia. Brain CAT scan and NMRI demostrared in all them signs of frontal, temporal, caudate nucleus andpjtame^'s atrophy. These three children excreted increased amounts of glutaric acid, 3-hydroxiglutaric acid andglutaconic acid, and decreased activity of the enzime glutaryi Coa dehidrogenase was recorded From their culturedfibioblasts, confirming the diagnosis of glutaric aciduria type I.(Key words: basal ganglia, brain diseases, dystonia, glutaric aciduria, type I.]" @default.
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- W2057150036 date "1995-10-01" @default.
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- W2057150036 title "Aciduria glutárica tipo I: una encefalopatía metabólica extrapiramidal" @default.
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- W2057150036 doi "https://doi.org/10.4067/s0370-41061995000500006" @default.
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