Publications

Search Publications
Export 4 results:
Author Title [ Year(Desc)]
Filters: Keyword is Metabolic Diseases  [Clear All Filters]
2017
Kim HIn, Raffler J, Lu W, Lee J-J, Abbey D, Saleheen D, et al. Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport. Am J Hum Genet. 2017 ;101(4):489-502.
2018
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, et al. 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.
Rowland EA, Snowden CK, Cristea IM. Protein lipoylation: an evolutionarily conserved metabolic regulator of health and disease. Curr Opin Chem Biol. 2018 ;42:76-85.
2021
Cable J, Pourquié O, Wellen KE, Finley LWS, Aulehla A, Gould AP, et al.. Metabolic decisions in development and disease-a Keystone Symposia report. Ann N Y Acad Sci. 2021 ;1506(1):55-73.