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Analysis of fragment size distribution of cell-free DNA: A potential noninvasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism
Author: Hoi Ioi Ng, Xiaofan Zhu, Liming Xuan, Yan Long, Yan Mao, Yu Shi, Liying Sun, Bo Liang, Charles Minard, Fernando Scaglia, Kwong Wai Choy, Zhijun Zhu
Journal: MOLECULAR GENETICS AND METABOLISM, 2019, Vol., , DOI:10.1016/j.ymgme.2019.03.004
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Apelin/APJ system as a therapeutic target in diabetes and its complications
Author: Haoliang Hu, Lu He, Lanfang Li, Linxi Chen
Journal: MOLECULAR GENETICS AND METABOLISM, 2016, Vol.119, 20-27, DOI:10.1016/j.ymgme.2016.07.012
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Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
Author: Lin HY, Chuang CK, Chen MR, Lin SM, Hung CL, Chang CY, Chiu PC, Tsai WH, Niu DM, Tsai FJ, Lin SJ, Hwu WL, Lin JL, Lin SP.
Journal: Mol Genet Metab. 2016 Apr;117(4):431-7. doi: 10.1016/j.ymgme.2016.02.003. Epub 2016 Feb 16.
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New observation of sialuria prompts detection of liver tumor in previously reported patient.
Author: Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE.
Journal: Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16.
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3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Author: Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.
Journal: Mol Genet Metab. 2016 May 16. pii: S1096-7192(16)30086-5. doi: 10.1016/j.ymgme.2016.05.011. [Epub ahead of print]
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Rapid detection of G6PD mutations by multicolor melting curve analysis
Author: Zhongmin Xia, Ping Chen, Ning Tang, Tizhen Yan, Yuqiu Zhou, Qizhi Xiao, Qiuying Huang, Qingge Li
Journal: MOLECULAR GENETICS AND METABOLISM, 2016, Vol.119, 168-173, DOI:10.1016/j.ymgme.2016.07.006
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Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Author: Nenad Blau
Journal: Molecular Genetics and Metabolism, 2016.
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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
Author: Georgianne L. Arnold
Journal: Molecular Genetics and Metabolism, 2016.
