Developmental disorder associated with increased cellular nucleotidase activity

Theodore Page; Alice Yu; John Fontanesi

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Developmental disorder associated with increased cellular nucleotidase activity

机译：与细胞核苷酸酶活性增加有关的发育障碍

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Four unrelated patients are described with a syndrome that included developmental delay, seizures, ataxia, recurrent infections, severe language deficit, and an unusual behavioral phenotype characterized by hyperactivity, short attention span, and poor social interaction. These manifesta- tions appeared within the first few years of life. Each patient displayed abnormalities on EEG. No unusual metabolites were found in plasma or urine, and metabolic testing was normal except for persistent hypouricosuria. Investigation of purine and pyrimidine metabolism in cultured fibroblasts derived from these patients showed normal incorporation of purine bases into nucleotides but decreased incorporation of uridine.

机译：描述了四名不相关的患者，其综合征包括发育迟缓，癫痫发作，共济失调，反复感染，严重的语言缺陷以及以活动过度，注意力不集中和社交互动不良为特征的异常行为表型。这些表现出现在生命的最初几年。每例患者的脑电图均显示异常。在血浆或尿液中未发现异常代谢物，并且除持续性尿尿不足外，代谢测试正常。对源自这些患者的培养成纤维细胞中嘌呤和嘧啶代谢的研究表明，嘌呤碱基正常掺入核苷酸，但尿苷掺入减少。

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《Proceedings of the National Academy of Sciences of the United States of America》 |1997年第21期|p.11601-11606|共6页
作者
Theodore Page; Alice Yu; John Fontanesi;
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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类自然科学总论;
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机译：负责与神经和发育障碍相关的AMP水解过度活跃的核苷酸酶的鉴定。
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6. Developmental disorder associated with increased cellular nucleotidase activity [O] . Theodore Page, Alice Yu, John Fontanesi, 1997

机译：与细胞核苷酸酶活性增加有关的发育障碍
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Developmental disorder associated with increased cellular nucleotidase activity

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