Methylmalonic aciduria and homocystinuria
Definition:
References:
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[1]. David Coelho, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64. [Content Brief]
[2]. David Coelho, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. [Content Brief]
[3]. David Watkins, et al. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. [Content Brief]
[4]. Jean-Louis Guéant, et al. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 Jan 4;9(1):67. [Content Brief]
[5]. Majid Alfadhel, et al. Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. Am J Med Genet A. 2011 Oct;155A(10):2571-7. [Content Brief]
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