Glyceroluria with adrenocortical insufficiency, developmental delay and early death.
作者信息
Søvik O, Jellum E, Madsen B
机构信息
Department of Pediatrics, University of Bergen, Haukeland Hospital, Norway.
出版信息
J Inherit Metab Dis. 1988;11(3):304-5. doi: 10.1007/BF01800376.
PMID:2852736
Abstract
摘要
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引用本文的文献
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Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述
J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.
本文引用的文献
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Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.伴有神经肌肉、骨骼和肾上腺异常的甘油激酶缺乏症。
Ann Neurol. 1980 May;7(5):441-9. doi: 10.1002/ana.410070509.
2
Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.与X染色体短臂DNA缺失相关的甘油激酶缺乏症的产前诊断。
Clin Genet. 1987 Oct;32(4):254-9. doi: 10.1111/j.1399-0004.1987.tb03309.x.
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