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Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD
Author: Qian, GuLing; Liu, Chen; Xu, YanHua; Zhou, Duo; Chen, Chi; Wu, BenQing; Huang, XinWen
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2026; Vol. 46, Issue , pp. -. DOI: 10.1016/j.ymgmr.2026.101292
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Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatmen
Author: Lee, Jesse Zhen Cheng; Chow, Chit Kwong; Fung, Cheuk-Wing; Lui, Stephen Tak Yau; Wong, Suet-Na Sheila
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2025; Vol. 43, Issue , pp. -. DOI: 10.1016/j.ymgmr.2025.101224
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Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tool
Author: Li, Fei; Cai, Qin; Ji, Wei; Xu, Miao; Tian, Guoli; Zeng, Fanyi
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2025; Vol. 43, Issue , pp. -. DOI: 10.1016/j.ymgmr.2025.101208
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The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemi
Author: Yuan, Fang; Song, Xiaozhen; Yin, Rongrong; Lan, Xiaoping; Sun, Jingjing; Tang, Xiaojun; Xu, Wuhen; Hu, Shaohua; Xiao, Man; Zhang, Hong; Weng, Wenhao; Zhang, Yuanfeng; Wu, Shengnan
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2025; Vol. 43, Issue , pp. -. DOI: 10.1016/j.ymgmr.2025.101209
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Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotyp
Author: Cai, Junpeng; Zhou, Xiaomin; Zhou, Yu; Pi, Guanghuan
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2025; Vol. 42, Issue , pp. -. DOI: 10.1016/j.ymgmr.2024.101177
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Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL varian
Author: Zhou, Wei; Li, Huizhong; Yang, Li
Journal: MOLECULAR GENETICS AND METABOLISM REPORTS. 2025; Vol. 42, Issue , pp. -. DOI: 10.1016/j.ymgmr.2024.101184