Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II
Wang, Yu, Ye, Jun, Qiu, Wen-juan, Han, Lian-shu, Gao, Xiao-lan, Liang, Li-li, Gu, Xue-fan, Zhang, Hui-wen
Published in Acta pharmacologica Sinica (01.02.2019)
Published in Acta pharmacologica Sinica (01.02.2019)
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Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
Tong, Fan, Wang, Jian, Xiao, Rui, Wu, Bing-Bing, Zou, Chao-Chun, Wu, Ding-Wen, Wang, Hua, Zou, Hui, Han, Lian-Shu, Yang, Lin, Zou, Lin, Hei, Ming-Yan, Yang, Ru-Lai, Yuan, Tian-Ming, Wen, Wei, Huang, Xin-Wen, Gu, Xue-Fan, Yang, Yan-Ling, Huang, Yong-Lan, Zhang, Yong-Jun, Yu, Yong-Guo, Xu, Zheng-Feng, Zhou, Wen-Hao, Zhao, Zheng-Yan
Published in World journal of pediatrics : WJP (01.04.2022)
Published in World journal of pediatrics : WJP (01.04.2022)
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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
Liu, Mei-Ying, Yang, Yan-Ling, Chang, Ying-Chen, Chiang, Szu-Hui, Lin, Shuan-Pei, Han, Lian-Shu, Qi, Yu, Hsiao, Kwang-Jen, Liu, Tze-Tze
Published in Journal of human genetics (01.09.2010)
Published in Journal of human genetics (01.09.2010)
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Journal Article
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
Ye, Jun, Qiu, Wen-Juan, Han, Lian-Shu, Zhang, Hui-Wen, Gu, Xue-Fan
Published in Chinese medical journal (05.11.2015)
Published in Chinese medical journal (05.11.2015)
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Journal Article
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
Bao, Pei-Zhong, Ye, Jun, Han, Lian-Shu, Qiu, Wen-Juan, Zhang, Hui-Wen, Yu, Yong-Guo, Wang, Jian-Guo, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.02.2019)
Published in World journal of pediatrics : WJP (01.02.2019)
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Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency
Zhang, Rui-Nan, Li, Yi-Fan, Qiu, Wen-Juan, Ye, Jun, Han, Lian-Shu, Zhang, Hui-Wen, Lin, Na, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.05.2014)
Published in World journal of pediatrics : WJP (01.05.2014)
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In vitro evaluation of physiological activity of vinegar produced from barley-, sweet potato-, and rice-shochu post-distillation slurry
Ye, X.J. (Kumamoto Univ. (Japan)), Morimura, S, Han, L.S, Shigematsu, T, Kida, K
Published in Bioscience, biotechnology, and biochemistry (01.03.2004)
Published in Bioscience, biotechnology, and biochemistry (01.03.2004)
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Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia
Gao, Yu, Guan, Wen-ye, Wang, Jiang, Zhang, Yu-zhen, Li, Yu-hua, Han, Lian-shu
Published in Chinese medical journal (20.04.2009)
Published in Chinese medical journal (20.04.2009)
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Living‐donor liver transplantation for children with tyrosinemia type I
Liu, Yuan, Luo, Yi, Xia, Lei, Qiu, Bi Jun, Zhou, Tao, Feng, Ming Xuan, Xue, Feng, Chen, Xiao Song, Han, Lian Shu, Zhang, Jian Jun, Xia, Qiang
Published in Journal of digestive diseases (01.03.2020)
Published in Journal of digestive diseases (01.03.2020)
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Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort
Wu, Sheng-Nan, E, Hui-Shu, Yu, Yue, Ling, Shi-Ying, Liang, Li-Li, Qiu, Wen-Juan, Zhang, Hui-Wen, Shuai, Rui-Xue, Wei, Hai-Yan, Yang, Chi-Ju, Xu, Peng, Chen, Xi-Gui, Zou, Hui, Feng, Ji-Zhen, Niu, Ting-Ting, Hu, Hai-Li, Zhang, Kai-Chuang, Lu, De-Yun, Gong, Zhu-Wen, Zhan, Xia, Ji, Wen-Jun, Gu, Xue-Fan, Chen, Yong-Xing, Han, Lian-Shu
Published in World journal of pediatrics : WJP (01.08.2024)
Published in World journal of pediatrics : WJP (01.08.2024)
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Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
Han, Lian-Shu, Huang, Zhuo, Han, Feng, Ye, Jun, Qiu, Wen-Juan, Zhang, Hui-Wen, Wang, Yu, Gong, Zhu-Wen, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.11.2015)
Published in World journal of pediatrics : WJP (01.11.2015)
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Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy
Chu, Shan-Shan, Ye, Jun, Zhang, Hui-Wen, Han, Lian-Shu, Qiu, Wen-Juan, Gao, Xiao-Lan, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.11.2015)
Published in World journal of pediatrics : WJP (01.11.2015)
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Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies
Ye, Jun, Zhang, Hui-Wen, Qiu, Wen-Juan, Han, Lian-Shu, Zhang, Ya-Fen, Gong, Zhu-Wen, Gu, Xue-Fan
Published in Molecular medicine reports (01.01.2012)
Published in Molecular medicine reports (01.01.2012)
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Journal Article
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis
Lei, Hong-Lin, Ye, Jun, Qiu, Wen-Juan, Zhang, Hui-Wen, Han, Lian-Shu, Wang, Yu, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.11.2012)
Published in World journal of pediatrics : WJP (01.11.2012)
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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency
Lu, De-Yun, Ye, Jun, Han, Lian-Shu, Qiu, Wen-Juan, Zhang, Hui-Wen, Zhou, Jian-De, Bao, Pei-Zhong, Zhang, Ya-Fen, Gu, Xue-Fan
Published in World journal of pediatrics : WJP (01.08.2014)
Published in World journal of pediatrics : WJP (01.08.2014)
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Journal Article
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
Liu, Mei-Ying, Liu, Tze-Tze, Yang, Yang-Ling, Chang, Ying-Chen, Fan, Ya-Ling, Lee, Shu-Fen, Teng, Yu-Ting, Chiang, Szu-Hui, Niu, Dau-Ming, Lin, Shio-Jean, Chao, Mei-Chun, Lin, Shuan-Pei, Han, Lian-Shu, Qi, Yu, Hsiao, Kwang-Jen
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
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Book Chapter
Journal Article
Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy
Fu, Li-jun, Chen, Shu-bao, Han, Lian-shu, Guo, Ying, Zhao, Peng-jun, Zhu, Min, Li, Fen, Huang, Mei-rong
Published in Zhonghua er ke za zhi (01.12.2012)
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Published in Zhonghua er ke za zhi (01.12.2012)
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Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
Huang, Zhuo, Han, Lian-shu, Ye, Jun, Qiu, Wen-juan, Zhang, Hui-wen, Gao, Xiao-lan, Wang, Yu, Ji, Wen-jun, Li, Xiao-yan, Gu, Xue-fan
Published in Zhonghua er ke za zhi (01.03.2013)
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Published in Zhonghua er ke za zhi (01.03.2013)
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