Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.
作者信息
Kalyanaraman K, Chamukuttan S, Arjundas G, Gajanan N, Ramamurthi B
出版信息
J Neurol Sci. 1972 Feb;15(2):209-17. doi: 10.1016/0022-510x(72)90008-1.
PMID:5010106
Abstract
摘要
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1
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.表现为多动行为和智力迟钝的枫糖尿症（支链酮酸尿症）变异型。两例报告。
J Neurol Sci. 1972 Feb;15(2):209-17. doi: 10.1016/0022-510x(72)90008-1.
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6
[On the clinical picture and pathological anatomy of the maple syrup disease ("branded chain ketoaciduria"). Report on 2 cases in 1 family].
Dtsch Med Wochenschr. 1968 May 3;93(18):895-903 passim. doi: 10.1055/s-0028-1105160.
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Plasma amino acid analyses in two cases of maple syrup urine disease.两例枫糖尿症的血浆氨基酸分析
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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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[Leucinose. II. Study of heterozygotes].
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