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MOGS-CDG: Quantitative analysis of the diagnostic Glc(3)Man tetrasaccharide and clinical spectrum of six new cases
Author: Post, Merel A. A.; de Wit, Isis; Zijlstra, Fokje S. M.; Engelke, Udo F. H.; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito-Lee, Joy; Lee, Beom Hee; Low, Karen J. J.; Mallick, Andrew A. A.; Ounap, Katrin; Pitt, James; Reardon, William; Vals, Mari-Anne; Wortmann, Saskia B. B.; Wessels, Hans J. C. T.; Barenfanger, Melissa; van Karnebeek, Clara D. M.; Lefeber, Dirk J. J.
Journal: JOURNAL OF INHERITED METABOLIC DISEASE. 2023; Vol. 46, Issue 2, pp. 313-325. DOI: 10.1002/jimd.12588
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AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria
Author: Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang
Journal: JOURNAL OF INHERITED METABOLIC DISEASE, 2017, Vol.41, 679-687, DOI:10.1007/s10545-017-0115-6
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Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
Author: Jun Ye, Yanling Yang, Weimin Yu, Hui Zou, Jianhui Jiang, Rulai Yang, Sunny Shang, Xuefan Gu
Journal: JOURNAL OF INHERITED METABOLIC DISEASE, 2012, Vol.36, 893-901, DOI:10.1007/s10545-012-9550-6
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Clinical features and <Emphasis Type="Italic">ETFDH</Emphasis> mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Author: Jianying Xi, Bing Wen, Jie Lin, Wenhua Zhu, Sushan Luo, Chongbo Zhao, Duoling Li, Pengfei Lin, Jiahong Lu, Chuanzhu Yan
Journal: JOURNAL OF INHERITED METABOLIC DISEASE, 2013, Vol.37, 399-404, DOI:10.1007/s10545-013-9671-6
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Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene
Author: X. L. Wang, C. J. Li, Y. Xing, Y. H. Yang, J. P. Jia
Journal: JOURNAL OF INHERITED METABOLIC DISEASE, 2015, Vol.38, 855-861, DOI:10.1007/s10545-015-9814-z
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Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study
Author: Lin Wang, Hui Zou, Fang Ye, Kundi Wang, Xiaowen Li, Zhihua Chen, Jie Chen, Bingjuan Han, Weimin Yu, Chun He, Ming Shen
Journal: JOURNAL OF INHERITED METABOLIC DISEASE, 2016, Vol.40, 369-376, DOI:10.1007/s10545-016-9995-0
