A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.
复制标题
一种青少年型甘油激酶缺乏症，伴有阵发性呕吐、酸血症和昏迷。
DOI：
10.1016/s0022-3476(84)80956-7
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
McCabe,ER
中科院分区：
文献类型：
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作者：
Ginns,EI;Barranger,JA;McClean,SW;Sliva,C;Young,R;Schaefer,E;Goodman,SI;McCabe,ER
重印请求：Edward RB McCabe，MD，Ph.D.，儿科系，信箱C233，科罗拉多大学健康科学中心，4200 E。第九大道，丹佛，CO 80262。肾上腺发育不全和功能不全、发育迟缓和婴儿期非特异性肌病的证据。另外一个孩子被描述为甘油激酶缺乏症和呕吐、贫血、嗜睡和昏迷的发作，从4岁开始。9我们已经证实了一个男孩的甘油激酶缺乏症，他有阵发性呕吐、酸血症和木僵，发育正常，肾上腺功能正常，没有肌病的证据。对这个病人的简要描述已经以摘要的形式出现了？
Reprint requests: Edward RB McCabe, MD, Ph. D., Department of Pediatrics, Box C233, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Denver, CO 80262. evidence of adrenal hypoplasia and insufficiency, developmental delay, and nonspecific myopathy from infancy. 6~ An additional child has been described with glycerol kinase deficiency and episodes of vomiting, aeidemia, somnolence, and coma, beginning at 4 years of age. 9 We have documented glycerol kinase deficiency in a boy with episodic vomiting, acidemia, and stupor, normal development, normal adrenal function, and no evidence of myopathy. A brief description of this patient has appeared in abstract form?