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Abnormality of vitamin B metabolism
- ... 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): ...
- ... 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
- ... LMBRD1: the gene for the cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
- ... 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. ...
- ... 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; ...
- ... after age 10 Protruding abdomen Slurred speech Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools
- ... 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( ...
- ... 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): ...
- Diabetes and Dietary Supplements: What You Need to Know (National Center for Complementary and Integrative Health)National Center for Complementary and Integrative Health ... Diabetic Diet/Related Issues ... Diabetic Diet ... Diabetes Type 2/Treatments and Therapies ... Diabetes Type ...
- ... 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 ...