精氨基琥珀酸尿症是英文argininosuccinic aciduria的中文翻译。这一疾病又叫做Argininosuccinate lyase deficiency ;argininosuccinic acidemia ;Argininosuccinicaciduria ;argininosuccinyl-CoA lyase deficiency ;arginosuccinas...
丙酮酸脱氢酶缺乏症是英文pyruvate dehydrogenase deficiency的中文翻译。这一疾病又叫做ataxia with lactic acidosis intermittent ataxia with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency pyruvate dehydrogenas...
丙酮酸羧化酶缺乏症是英文pyruvate carboxylase deficiency的中文翻译。这一疾病又叫做Ataxia with Lactic Acidosis, Type II PC deficiency Pyruvate Carboxylase Deficiency Disease;Leigh亚急性坏死性脑脊髓病,硫胺素缺乏综...
多种硫酸酯酶缺乏症是英文multiple sulfatase deficiency的中文翻译。这一疾病又叫做Austin syndrome;juvenile sulfatidosis, Austin type;MSD;mucosulfatidosis;。该病是一种基因病、遗传病。佳学基因通过基因解码...
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