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Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective stud
Author: Li, Duoling; Jiao, Kexin; Yang, Huan; Ma, Mingming; Qiu, Wenjuan; Wang, Zhaoxia; Hu, Jing; Qiu, Zhengqing; Shang, Huifang; Li, Bin; Wu, Wei; Shen, Dan; Zhu, Wenhua; Zhao, Yuying
Journal: MOLECULAR GENETICS AND METABOLISM. 2026; Vol. 148, Issue 2, pp. -. DOI: 10.1016/j.ymgme.2026.109874
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Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndrome
Author: Lang, Steven H.; Cottingham, Naiga; Donnelly, Colleen; Risen, Sarah; Muncher, Rossana Malatesta; Brewer, Eileen D.; Saland, Jeffery M.; Benchimol, Corrine; Scaglia, Fernando; Ganesh, Jaya
Journal: MOLECULAR GENETICS AND METABOLISM. 2026; Vol. 147, Issue 3, pp. -. DOI: 10.1016/j.ymgme.2026.109731
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Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1
Author: Liu, Yupeng; Lam, Christina; Poskanzer, Sheri; Thies, Jenny; Stevens, Holly; Zhang, Wenyue; Morava, Eva; He, Miao
Journal: MOLECULAR GENETICS AND METABOLISM. 2026; Vol. 147, Issue 3, pp. -. DOI: 10.1016/j.ymgme.2025.109708
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Ventriculomegaly in mucopolysaccharidosi
Author: Namazova-Baranova, Leyla; Karkashadze, George; Vashakmadze, Nato
Journal: MOLECULAR GENETICS AND METABOLISM. 2026; Vol. 147, Issue 2, pp. -. DOI: 10.1016/j.ymgme.2025.109560
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Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in Chin
Author: Liu, Yang; Shen, Danmin; Song, Tianyu; Xu, Chaolong; Duan, Xin; Song, Minhan; Li, Tongyue; Zou, Ying; Duan, Ruoyu; Liu, Zhimei; Zhao, Suzhou; Fang, Fang
Journal: MOLECULAR GENETICS AND METABOLISM. 2025; Vol. 145, Issue 4, pp. -. DOI: 10.1016/j.ymgme.2025.109158
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Genetic syndromes, eponyms, and toponyms sounding literally Greek to you
Author: Mentis, Alexios-Fotios A
Journal: MOLECULAR GENETICS AND METABOLISM. 2025; Vol. 145, Issue 2, pp. -. DOI: 10.1016/j.ymgme.2025.109130
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcome
Author: Verberkmoes, Sanne; Mazza, Gina L.; Edmondson, Andrew C.; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C. H.; Mousa, Jehan; Larson, Austin; Shah, Rameen; Mcdonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva
Journal: MOLECULAR GENETICS AND METABOLISM. 2025; Vol. 145, Issue 1, pp. -. DOI: 10.1016/j.ymgme.2025.109087
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Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe diseas
Author: Lu, Yuxuan; Tian, Jiayu; Deng, Jianwen; Peng, Qing; Zhang, Wei; Yuan, Yun; Yu, Meng; Wang, Zhaoxia
Journal: MOLECULAR GENETICS AND METABOLISM. 2025; Vol. 144, Issue 3, pp. -. DOI: 10.1016/j.ymgme.2025.109045
