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Results 1 - 7 of 7 for Abnormality of vitamin metabolism
  1. ABCD4 gene 
    ... in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. ... atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  2. MMADHC gene 
    ... B. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358( ... and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism. Mol Genet Metab. 2011 Feb;102(2):139- ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  3. PRDX1 gene 
    ... in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 Apr 19;14(1): ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  4. LMBRD1 gene 
    ... LMBRD1: the gene for the cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
    https://medlineplus.gov/genetics/gene/lmbrd1 - Genetics
  5. FOLR1 gene 
    ... D, Rosenblatt DS. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. J Inherit Metab Dis. 2012 Jul;35(4): ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  6. MMACHC gene 
    ... developmental delay, eye defects, neurological problems, and blood ... transport of vitamin B12, impairing production of both AdoCbl and MeCbl. ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  7. MTHFR gene 
    ... is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of ... process folate. While a shortage (deficiency) of this vitamin is an established risk factor for neural tube ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics