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Search Results - 杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092
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六例肉碱棕榈酰基转移酶2缺乏症患儿临床特征及基因变异分析
by
张彦
,
邱文娟
,
张惠文
,
陈婷
,
徐烽
,
顾学范
,
韩连书
Published in
浙江大学学报(医学版)
(25.04.2024)
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Journal Article
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medicine
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carnitine palmitoyltransferase 2 deficiency
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case report
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clinical features
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cpt2 gene
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free carnitine
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tandem mass spectrometry
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Chinese
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PubMed Central
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