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Results 1 - 10 of 11 for Abnormality of vitamin B metabolism
  1. Methylmalonic acidemia with homocystinuria 
    ... an inborn error of cobalamin metabolism and developmental abnormalities. Hum ... cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  2. MMADHC gene 
    ... and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism. Mol Genet Metab. 2011 Feb;102(2):139- ... M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. Molecular mechanisms leading ... Epub 2011 Dec 8. Citation on PubMed
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  3. 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
  4. ABCD4 gene 
    ... D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  5. MMACHC gene 
    ... homocystinuria type C protein Tests of MMACHC ... V, Fowler B, Baumgartner MR, Yue WW. Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. J Biol Chem. 2015 Dec 4; ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  6. Imerslund-Gräsbeck syndrome 
    ... IGS1 PubMed Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. ... anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood. 2000 Jul 15;96( ...
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
  7. FOLR1 gene 
    ... alpha. This protein helps regulate transport of the B-vitamin folate into cells. Folate (also called vitamin B9) ... 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
  8. Biotin-thiamine-responsive basal ganglia disease 
    ... into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. In this disorder, abnormalities affect several parts of the brain. Using medical ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  9. Homocystinuria 
    ... Watkins D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitam Horm. 2022;119:355-376. doi: 10.1016/bs.vh.2022.01.010. Epub 2022 Feb 21. ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  10. Chylomicron retention disease 
    ... the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11. Citation on PubMed
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
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