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Results 1 - 10 of 16 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. Bassen-Kornzweig syndrome 
    ... after age 10 Protruding abdomen Slurred speech Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools
    https://medlineplus.gov/ency/article/001666.htm - Medical Encyclopedia
  7. 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
  8. 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
  9. Diabetes and Dietary Supplements: What You Need to Know From the National Institutes of Health (National Center for Complementary and Integrative Health)  
    Diabetes Type 2/Treatments and Therapies ... Diabetes Type 2 ... Diabetic Diet/Related Issues ... Diabetic Diet ... National Center for Complementary and Integrative Health
    https://www.nccih.nih.gov/...etary-supplements-what-you-need-to-know - External Health Links
  10. 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
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