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Biochimica Et Biophysica Acta|June 28, 2008
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolismSven Wolfgang Sauer, Juergen G Okun, Georg F Hoffmann, et al.
Molecular Genetics and Metabolism|August 27, 2013
The incidence of urea cycle disordersMarshall L Summar, Stefan Koelker, Debra Freedenberg, et al.
Disease Models & Mechanisms|October 9, 2025
SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell deathJohn Hellicar, Tal Dattner, Tian Sun, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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