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Journal of Clinical Lipidology|February 21, 2019
Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature reviewXueying Su, Yongxian Shao, Yunting Lin, et al.
Journal of Colloid and Interface Science|December 20, 2024
Accelerated arsenic decontamination using graphene oxide-supported metal-organic framework nanoconfined membrane for sustainable performanceYunyun Wang, Dongyi Li, Yonglan Huang, et al.
Clinical Biochemistry|November 14, 2020
Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MSChengfang Tang, Xuefang Jia, Fang Tang, et al.
Metabolic Brain Disease|February 27, 2017
Brain abnormalities in fucosidosis: transplantation or supportive therapy?Minyan Jiang, Sha Liu, Hua Jiang, et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|January 22, 2016
[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome]Zhizi Zhou, Li Liu, Moling Wu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 5, 2018
Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemiaYi Feng, Sichi Liu, Chengfang Tang, et al.
BMC Genomics|September 16, 2024
Characterization of active transposable elements and their new insertions in tuber propagated greater yam (Dioscorea alata)Sajjad Ali Panhwar, Dandan Wang, Fanhui Lin, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 4, 2015
[Kniest dysplasia due to mutation of COL2A1 gene]Moling Wu, Li Liu, Zhizi Zhou, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 30, 2022
Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based studyMin-Yi Tan, Xiang Jiang, Hui-Fen Mei, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 15, 2019
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variantsWen Zhang, Ting Xie, Huiying Sheng, et al.
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