Enzyme activity in classical and variant forms of maple syrup urine disease.
作者信息
Dancis J, Hutzler J, Snyderman S E, Cox R P
出版信息
J Pediatr. 1972 Aug;81(2):312-20. doi: 10.1016/s0022-3476(72)80301-9.
PMID:5042489
Abstract
摘要
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Enzyme activity in classical and variant forms of maple syrup urine disease.枫糖尿症经典型和变异型中的酶活性。
J Pediatr. 1972 Aug;81(2):312-20. doi: 10.1016/s0022-3476(72)80301-9.
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Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.一名19岁女性分支链酮酸尿症变异型的生化研究。
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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。
Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.
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Classical maple syrup urine disease: cofactor resistance.经典型枫糖尿症：辅因子抵抗
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The enzyme defect in maple syrup urine disease (branched chain ketoaciduria).枫糖尿症（支链酮酸尿症）中的酶缺陷。
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Intermittent branched chain ketonuria (variant of maple syrup urine disease).间歇性支链酮尿症（枫糖尿症变异型）
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[Studies on "branched chain oxoacid aciduria" (maple syrup diseases)].关于“支链酮酸尿症”（枫糖尿症）的研究
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Variant maple syrup urine disease in mother and daughter.母女患变异型枫糖尿症。
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Letter: Historical observation in maple syrup urine disease.信函：枫糖尿症的历史观察
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Maple syrup urine disease variant: report on an infant.枫糖尿症变异型：一例婴儿报告。
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Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.硫胺素反应性枫糖尿症：突变型支链α-酮酸脱氢酶对α-酮异戊酸和硫胺素焦磷酸的亲和力降低。
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Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.正常人和经典型枫糖尿症患者皮肤成纤维细胞中支链2-氧代酸脱氢酶及其组分的活性
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Normal 2-aminobutyrate oxidation and increased valine oxidation in fibroblasts deficient in pyruvate dehydrogenase.丙酮酸脱氢酶缺乏的成纤维细胞中正常的2-氨基丁酸氧化和缬氨酸氧化增加
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Maple syrup urine disease--therapeutic use of insulin in catabolic states.枫糖尿症——胰岛素在分解代谢状态下的治疗应用。
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