Urinary excretion of C6-C10 dicarboxylic acids in glycogen storage disease types I and 3.
作者信息
Dosman J, Crawhall J C, Klassen G A, Mamer O A, Neumann P
出版信息
Clin Chim Acta. 1974 Feb 28;51(1):93-101. doi: 10.1016/0009-8981(74)90065-5.
PMID:4522834
Abstract
摘要
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引用本文的文献
1
Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.五例糖原贮积病患者的低酮尿性3-羟基二羧酸尿症
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2
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.一名患有糖原贮积病的营养不良婴儿尿中3-羟基癸二酸显著升高，酷似长链L-3-羟基酰基辅酶A脱氢酶缺乏症。
J Inherit Metab Dis. 1993;16(5):851-6. doi: 10.1007/BF00714277.
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Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.
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Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.中链酰基辅酶A脱氢酶缺乏症的催化缺陷。八例患者缺乏辅因子反应性和生化异质性。
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