Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00995-7.pdf
Reference10 articles.
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3. Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, et al. Determinants of riboflavin responsiveness in multiple Acyl-CoA dehydrogenase deficiency. Pediatr Neurol. 2019;99:69–75.
4. Schiff M, Veauville-Merllié A, Su CH, et al. SLC25A32 mutations and riboflavin-responsive exercise intolerance. N. Engl J Med. 2016;374:795–7.
5. Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, et al. Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. Eur J Hum Genet. 2017;25:886–8. https://doi.org/10.1038/ejhg.2017.62. Available from
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