MAPLE SYRUP URINE DISEASE - AN INBORN ERROR OF THE METABOLISM OF VALINE, LEUCINE, AND ISOLEUCINE ASSOCIATED WITH GROSS MENTAL DEFICIENCY
MAPLE SYRUP URINE DISEASE - AN INBORN ERROR OF THE METABOLISM OF VALINE, LEUCINE, AND ISOLEUCINE ASSOCIATED WITH GROSS MENTAL DEFICIENCY
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DOI：
10.1136/bmj.1.5114.90
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发表时间：
1959-01-01
影响因子：
--
通讯作者：
WOOLF, LI
中科院分区：
文献类型：
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作者：
MACKENZIE, DY;WOOLF, LI
讨论我们认为这个孩子患有先天性的缬氨酸、亮氨酸和异亮氨酸代谢缺陷，在某些方面类似于苯丙酮尿症。Coon、罗宾逊和Bachhawat（1955）已证明这三种脂肪族氨基酸的代谢如下：（A、B、C）
Discussion We suggest that this child is suffering from an inborn error of the metabolism of valine, leucine, and isoleucine, similar in some ways to phenylketonuria. Coon, Robinson, and Bachhawat (1955) have shown that these three aliphatic amino-acids are metabolized as follows:(A, B, C)