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A clinical analysis of methylmalonic acidemia in adolescents

[A clinical analysis of methylmalonic acidemia in adolescents].

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收录情况: ◇ 统计源期刊 ◇ 北大核心 ◇ CSCD-C ◇ 中华系列

机构: [1]100053北京,首都医科大学宣武医院神经内科
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摘要:
To investigate the clinical characteristics of methylmalonic academia in adolescence cases. 4 cases were diagnosed methylmalonic academia by gas chromatography- mass spectrogram whose clinical, manifestations and treatment process were analyzed. The main clinical manifestations in 4 cases with methylmalonic academia were intellect impairment, epilepsy, pyramid signs; 2 of them suffered with hypoplasia and optic atrophy, one of them suffered with papilledema. Symptoms were improved after treated with cobamamide and L-carnitine in all the 4 cases 1 months later. The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.

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第一作者机构: [1]100053北京,首都医科大学宣武医院神经内科
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通讯机构: [1]100053北京,首都医科大学宣武医院神经内科
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