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Workup for paroxysmal nocturnal hemoglobinuria and a JAK mutation was also performed, each yielding non-contributory findings

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency

10.2337/db15-0443 32 IshikawaM.NakazawaT.KunikataH.SatoK.YoshitomiT.KrishnanK.et al (2022)

J Biol Chem 266 : 1005010053 Saito Y, Hayashi T, Tanaka A, Watanabe Y, Suzuki M, Saito E, Takahashi K 1999 Selenoprotein P in human plasma as an extracellular phospholipid hydroperoxide glutathione peroxidase