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174 , 175 Biallelic loss of function mutations in IFT74 were previously reported to induce BBS with a clear phenotype of obesity, polydactyly, retinal dystrophy, and intellectual disability

Improved erythrocyte survival with high dose vitamin E in chronic hemolysing G6PD and glutathione synthetase deficiency

Melatonin synthesis was evaluated by measuring urinary 6-sulfatoxymelatonin, the primary metabolite of melatonin, which increased 1.6-fold in the Epitalon group relative to placebo

Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (1996) 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis