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Filters: Keyword is Metabolic Diseases [Clear All Filters]
Metabolic decisions in development and disease-a Keystone Symposia report. Ann N Y Acad Sci. 2021 ;1506(1):55-73..
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport. Am J Hum Genet. 2017 ;101(4):489-502..
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 ;125(1-2):118-126..
Protein lipoylation: an evolutionarily conserved metabolic regulator of health and disease. Curr Opin Chem Biol. 2018 ;42:76-85..