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长期智力障碍病因中的有机酸尿症和氨基酸尿症。

Organic acidurias and amino acidurias in the aetiology of long-term mental handicap.

作者信息

Watts R W, Baraitser M, Chalmers R A, Purkiss P

出版信息

J Ment Defic Res. 1980 Dec;24 Pt 4:257-70. doi: 10.1111/j.1365-2788.1980.tb00080.x.

DOI:10.1111/j.1365-2788.1980.tb00080.x
PMID:6783756
Abstract

In order to evaluate the contribution of patients with organic aciduria and amino acidopathies to populations with severe long-term mental handicap, urine from a total of 1,778 such patients from four hospitals has been examined for organic acids and amino acids. The patients have been classified into eight groups according to the nature of their handicap. It is concluded that, apart from phenylketonuria originating from before dietary treatment was available, known inherited metabolic diseases do not contribute significantly to the incidence of mental handicap in the population studied.

摘要

为了评估有机酸尿症和氨基酸代谢病患者对严重长期智力障碍人群的影响,对来自四家医院的总共1778名此类患者的尿液进行了有机酸和氨基酸检测。这些患者已根据其智力障碍的性质分为八组。得出的结论是,除了在饮食治疗出现之前就已存在的苯丙酮尿症外,已知的遗传性代谢疾病对所研究人群中智力障碍的发生率没有显著影响。

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