Search Results - Jianbo Shu

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources? by Xiaoyu Cui, Xiaoyu Cui, Na Li, Hong Xue, Fang Zhang, Jianbo Shu, Jianbo Shu, Yang Liu

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Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 by Lu Wang, Lu Wang, Haiquan Xu, Jianbo Shu, Jianbo Shu, Dandan Yan, Dandan Yan, Dong Li, Chunquan Cai, Chunquan Cai

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Association Between Methylmalonic Acid and Cognition: A Systematic Review and Meta-Analysis by Chao Wang, Chao Wang, Ying Zhang, Ying Zhang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Yuping Yu, Yuping Yu, Wei Liu

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Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein by Meifang Lei, Yaqiong Cui, Yaqiong Cui, Zhaoying Dong, Xiufang Zhi, Xiufang Zhi, Jianbo Shu, Jianbo Shu, Chunquan Cai, Chunquan Cai, Dong Li

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Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes by Xiaofang Chen, Xiaofang Chen, Jia Fu, Jia Fu, Ying Qian, Ying Qian, Xiufang Zhi, Xiufang Zhi, Linjie Pu, Linjie Pu, Chunyu Gu, Chunyu Gu, Jianbo Shu, Jianbo Shu, Jianbo Shu, Ling Lv, Ling Lv, Chunquan Cai, Chunquan Cai, Chunquan Cai

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Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant by Jianbo Shu, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jing Chen, Jing Chen, Meifang Lei, Meifang Lei, Jie Zheng, Jie Zheng, Wenchao Sheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Dong Li, Chunquan Cai, Chunquan Cai, Chunquan Cai, Chunquan Cai

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Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant by Meifang Lei, Ping Wang, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Jianbo Shu, Qianqian Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai, Dong Li, Yuqin Zhang

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High-throughput screening reveals novel mutations in spinal muscular atrophy patients by Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu, Chunquan Cai

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Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study by Weiwei Zhou, Ping Wang, Yanrui Bai, Ying Zhang, Jianbo Shu, Yang Liu

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Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome by Xiaodan Yan, Xiaodan Yan, Jianbo Shu, Jianbo Shu, Yanyan Nie, Ying Zhang, Ying Zhang, Ping Wang, Ping Wang, Weiwei Zhou, Weiwei Zhou, Xiaoyu Cui, Xiaoyu Cui, Yang Liu

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Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family by Dandan Yan, Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jie Zheng, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai, Chunquan Cai

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Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients by Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai

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The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III by Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu

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A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report by Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai

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A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review by Ying Zhang, Yanyan Nie, Yu Mu, Jie Zheng, Xiaowei Xu, Fang Zhang, Jianbo Shu, Yang Liu

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Beware of missed diagnosis in patients with multiple genetic diseases: a case report by Detong Guo, Xuemei Li, Nan Liu, Xiaoli Yu, Jianbo Shu, Wenchao Sheng, Dong Li, Chunquan Cai

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What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report by Chunyu Gu, Xiaowei Lu, Jinhui Ma, Linjie Pu, Xiufang Zhi, Jianbo Shu, Dong Li, Chunquan Cai

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Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study by Ruiping Zhang, Xiaoyu Cui, Yan Zhang, Huiqing Ma, Jing Gao, Ying Zhang, Jianbo Shu, Chunquan Cai, Yang Liu

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Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency by Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai, Jianbo Shu

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