Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
作者： G. F. Hoffmann , J. Zschocke
关键词: Excretion 、 Carnitine 、 Biochemistry 、 Glutaryl-CoA dehydrogenase 、 Endocrinology 、 Dehydrogenase 、 Biology 、 Genotype 、 Organic aciduria 、 Glutaric aciduria 、 Glutaric acid 、 Internal medicine
摘要: … acids. Abnormal metabolites vary from gross organic aciduria to only slightly or intermittently elevated or even normal excretion of glutaric acid, … or no excretion of glutaric acid, but there …
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