Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS.
Safran A, et al. Among authors: eremenko e.
J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9.
J Inherit Metab Dis. 2023.
PMID: 36695547