A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia by Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu

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Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency by Weifeng Zhang, Yanru Chen, Chunmei Lin, Weilin Peng, Qingliu Fu, Yiming Lin

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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings by Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn by Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu

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Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report by Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu

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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review by Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu

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