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Results 1 - 5 of 5 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. 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
  3. 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
  4. 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
  5. 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