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Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1059, doi. 10.1002/jimd.12540
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- Article
Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report.
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- Surgical Case Reports, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40792-019-0688-4
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- Article
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
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- Experimental & Therapeutic Medicine, 2020, v. 20, n. 5, p. N.PAG, doi. 10.3892/etm.2020.9166
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- Article