An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) von Mao, Shao-Jia, Zhao, Jia, Shen, Zheng, Zou, Chao-Chun

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Orthopedic manifestations in children with Prader-Willi syndrome von Miao, Miao, Zhao, Guo-Qiang, Zhou, Qiong, Chao, Yun-Qi, Zou, Chao-Chun

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Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome von Gao, Ying, Yang, Li-Li, Dai, Yang-Li, Shen, Zheng, Zhou, Qiong, Zou, Chao-Chun

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Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review von Tang, Wei, Wu, Ke‐Mi, Zhou, Qiong, Tang, Yan‐Fei, Fu, Jun‐Fen, Dong, Guan‐Ping, Zou, Chao‐Chun

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Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses von Li, Jing-Wen, Mao, Shao-Jia, Chao, Yun-Qi, Hu, Chen-Xi, Qian, Yan-Jie, Dai, Yang-Li, Huang, Ke, Shen, Zheng, Zou, Chao-Chun

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Gene variants and clinical characteristics of children with sitosterolemia von Gu, Rui, Wang, Hui, Wang, Chun-Lin, Lu, Mei, Miao, Miao, Huang, Meng-Na, Chen, Yi, Dai, Yang-Li, Zhu, Ming-Qiang, Zhou, Qiong, Zou, Chao-Chun

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6q25.1-q25.3 Microdeletion in a Chinese Girl von Zhong, Mian-Ling, Song, Ye-Mei, Zou, Chao-Chun

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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 von 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

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Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study von Huang, Meng-Na, Wang, Chen-Cen, Ma, Ming-Sheng, Chi, Mei-Zhu, Zhou, Qing, Jiang, Li-Hong, Wang, Chun-Lin, Lu, Mei, Chen, Xiao-Quan, Cheng, Ya-Ying, Ke, Qing, Wang, Da-Yan, Qian, Xiao-Xia, Ying, Xiao-Ming, Zhang, Jian-Ping, Shen, Qun-Hua, Liu, Li-Fang, Gu, Rui, Zhang, Zhen-Jie, Feng, Jian-Hua, Wang, Min, Zhu, Ming-Qiang, Huang, Ke, Fu, Jun-Fen, Zou, Chao-Chun

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Quality of life in caregivers of young children with Prader–Willi syndrome von Mao, Shu-Jiong, Shen, Jian, Xu, Fang, Zou, Chao-Chun

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Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report von Zhou, Qing, Liang, Bin, Fu, Qing-Xian, Liu, Hui, Zou, Chao-Chun

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Effect of lifestyle intervention on non-alcoholic fatty liver disease in Chinese obese children von Wang, Chun-Lin, Liang, Li, Fu, Jun-Fen, Zou, Chao-Chun, Hong, Fang, Xue, Jin-Zheng, Lu, Jin-Rui, Wu, Xiang-Min

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Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report von Huang, Dan, Zhao, Jia, Xia, Fang-Ling, Zou, Chao-Chun

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Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis) von Mao, Shao-Jia, Zu, Yu-Mei, Dai, Yang-Li, Zou, Chao-Chun

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Elevated tumour necrosis factor‐alpha was associated with intima thickening in obese children von Bo, Luo, Yi‐Can, Yang, Qing, Zhou, Xiao‐Hui, Wu, Ke, Huang, Chao‐Chun, Zou

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Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature von Wang, Hui, Wu, Dian, Wu, De-Hua, Tian, Hong-Juan, Li, Hai-Feng, Jiang, Ke-Wen, Zou, Chao-Chun

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review von Huang, Dan, Zhou, Qiong, Chao, Yun-Qi, Zou, Chao-Chun

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Report of one case with de novo mutation in TLK2 and literature review von Li, Han-Yue, Jiang, Chun-Ming, Liu, Ruo-Yan, Zou, Chao-Chun

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Vitamin C deficiency aggravates tumor necrosis factor α-induced insulin resistance von Qing, Zhou, Xiao-Hui, Wu, Xi-Mei, Wu, Chao-Chun, Zou

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Serum Adiponectin, Resistin Levels and Non-alcoholic Fatty Liver Disease in Obese Children von ZOU, Chao Chun, LIANG, Li, HONG, Fang, FU, Jun Feng, ZHAO, Zheng Yan

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