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首页> 外文期刊>Journal of inherited metabolic disease >Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H MRS) findings in a fourth case of combined D: - and L: -2 hydroxyglutaric aciduria.
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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H MRS) findings in a fourth case of combined D: - and L: -2 hydroxyglutaric aciduria.

机译:在合并D:-和L:-2羟基戊二酸尿症的第四例病例中,临床,生化,磁共振成像(MRI)和质子磁共振波谱((1)H MRS)发现。

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摘要

We report the fourth case of combined D: -and L: -2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
机译:我们报告合并新生儿脑病和室管膜下囊肿的D:-和L:-2-羟基戊二酸尿症合并的第四例。

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