HuGE Literature Finder
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| Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. Frontiers in genetics 2022 12 13 1062715. Chang Siyu, Yang Yi, Xu Feng, Ji Wenjun, Zhan Xia, Gao Xiaolan, Chen Ting, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Lu Deyun, Zhang Kaichuang, Gu Xuefan, Han Lians |
| Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China. Frontiers in genetics 2021 7 12 686137. Yang Xiangchun, Li Qiong, Wang Fei, Yan Lulu, Zhuang Danyan, Qiu Haiyan, Li Haibo, Chen Lia |
| Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
| Biochemical and genetic characteristics of 40 neonates with carnitine deficiency. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2020 Oct 45 (10): 1164-1171. Zhou Xiaoqiang, Teng Yanling, Lin-Peng Siyuan, Li Zhuo, Wu Lingqian, Liang Deshe |
| Functional and molecular studies in primary carnitine deficiency. Human mutation 2017 8 38 (12): 1684-1699. Frigeni Marta, Balakrishnan Bijina, Yin Xue, Calderon Fernanda R O, Mao Rong, Pasquali Marzia, Longo Nico |
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