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Nature , 633 (8028), 207215

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Andersson, Emmanuel Shapira, Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC), The Journal of Pediatrics, Volume 132, Issue 1, January 1998, Pages 121-124, ISSN 0022-3476, Okuda K, Yashima K, Kitazaki T, Takara I

Mutations in the AIRE gene cause autoimmune polyendocrinopathy, a condition where multiple organs come under immune attack simultaneously