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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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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[On the clinical picture and pathological anatomy of the maple syrup disease ("branded chain ketoaciduria"). Report on 2 cases in 1 family].
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[Leucinose. II. Study of heterozygotes].[亮氨酸糖。II. 杂合子的研究]
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