Methylmalonic aciduria

[1]. C Melissa Dobson, et al. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. [Content Brief]

[2]. C Melissa Dobson, et al. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet. 2002 Dec 15;11(26):3361-9. [Content Brief]

[3]. 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]

[4]. 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]

[5]. Edward V Quadros, et al. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Hum Mutat. 2010 Aug;31(8):924-9. [Content Brief]

[6]. Federica Deodato, et al. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. [Content Brief]

[7]. Frank Rutsch, et al. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet. 2009 Feb;41(2):234-9. [Content Brief]

[8]. H Bikker, et al. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. [Content Brief]

[9]. H Ogier de Baulny, et al. Branched-chain organic acidurias. Semin Neonatol. 2002 Feb;7(1):65-74. [Content Brief]

[10]. Hung-Chun Yu, et al. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. [Content Brief]

[11]. 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]

[12]. Jordan P Lerner-Ellis, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan;38(1):93-100. [Content Brief]