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-AASA accumulation is the metabolic signature of a deficiency in -AASA dehydrogenase observed in patients with pyridoxine-dependent epilepsy

88 Mounting evidence suggests growth hormone plays a role in the pathogeneses of these phenomena, 89,91,92 and numerous study findings have indicated that using hormone replacement therapy may help to combat these metabolic challenges

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doi: 10.1182/blood.2022016275 7 KushiyamaAOkuboHSakodaHKikuchiTFujishiroMSatoHet al

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