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Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993TGVariant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of MultipleCarboxylase Deficiency (MCD)

机译：勘误：同源的m.8993T G低瓜氨酸血症的变异和异常的生化特征提示多重羧化酶缺乏症（MCD）

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期刊名称 JIMD Reports
作者
Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters;
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年(卷),期 2017(33),-1
年度 2017
页码 111
总页数 1
原文格式 PDF
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1. Schnitzler's syndrome: An unusual cause of bone pain with suggestive nuclear imaging features [J] . N. De Raedt, L. Mortelmans Medecine Nucleaire . 2009,第10期

机译：Schnitzler综合征：骨痛的不寻常原因，提示核成像特征
2. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis [J] . Kenichiro Yamada, Misako Naiki, Shin Hoshino, Molecular Genetics and Metabolism Reports . 2014,第2期

机译：3-羟基异丁酰-CoA水解酶（HIBCH）缺乏症的临床和生化特征，导致李氏样疾病和酮症酸中毒
3. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1 [J] . SarigO., GoldsherD., NousbeckJ., American journal of medical genetics, Part A . 2013,第9期

机译：婴儿线粒体肝病是由SeraC1的新突变引起的Megdel综合征（3-甲基戊脲型IV型IV型IV型患有感觉耳聋，脑病和Leigh样综合征）的主要特征
4. Feature Selection for Specific Antibody Deficiency Syndrome by Neural Network with Weighted Fuzzy Membership Functions [C] . Joon S. Lim, Tae W. Ryu, Ho J. Kim, International Conference on Fuzzy Systems and Knowledge Discovery . 2005

机译：具有加权模糊隶属函数的神经网络特异性抗体缺乏综合征的特征选择
5. Leigh-Like Syndrome Due to Homoplasmic m.8993TG Variantwith Hypocitrullinemia and Unusual Biochemical Features Suggestive of MultipleCarboxylase Deficiency (MCD) [O] . Shanti Balasubramaniam, B. Lewis, D. M. Mock, 2017

机译：m.8993T G变异导致的同源综合征与低瓜氨酸血症和异常生化特征提示多重羧化酶缺乏症（MCD）
6. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) [O] . Balasubramaniam, S., Lewis, B., Mock, D.M., 2017

机译：同源的m.8993T> G变体，具有低瓜氨酸血症和异常生化特征，提示多种羧化酶缺乏症（MCD）

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993TGVariant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of MultipleCarboxylase Deficiency (MCD)

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