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GENETIC IMPLICATIONS OF RARE DISEASES

机译:罕见疾病的遗传学意义

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ELSEWHERE in this number of Pediatrics appears a splendid paper by Snyderman and others on the dietary treatment of "Maple Syrup Disease." This news of a successful treatment for so distressing a disorder will be greeted by cheers from all, but there will be also an obligato of groans from the many to whom the biochemistry and the means of measurement of amino acids and of their keto derivatives are formidable and alien. It is the lot and fate of all of us who are away from medical school for more than a few years to lose touch with some or many of the most rapidly changing aspects of the study of human biology, and because we are busy with our own work, we wish to have these advances laid out for us in comprehensive and comprehensible reviews, rather than to persist in the unequal struggle to read and to understand all the original work.
机译:在此小儿科的其他文献中,Snyderman等人发表了一篇出色的论文,涉及“枫糖浆病”的饮食治疗。所有人都将为这个令人痛苦的疾病成功治疗的消息而欢呼,但是许多人也会吟叹息,对这些人来说,生化和氨基酸及其酮衍生物的测定方法非常艰巨和外星人。离开医学院超过几年的我们所有人的命运都是命运,他们无法与人类生物学研究中的一些或许多变化最快的方面保持联系,并且因为我们正忙于自己的研究在工作中,我们希望在全面,易于理解的审查中为我们提供这些进步,而不是坚持阅读和理解所有原始工作的不平等斗争。

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