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Results 1 - 8 of 8 for Abnormality of vitamin 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 
    ... in biology from patients with inborn errors of vitamin B12 metabolism. Biochimie. 2013 May;95(5):1019-22. doi: 10.1016/j.biochi.2013.01.013. Epub 2013 Feb 10. Citation on PubMed
    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. 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
  5. Congenital bile acid synthesis defect type 1 
    ... the condition progresses, affected individuals can develop liver abnormalities ... fat-soluble vitamins (vitamin D in particular) can result in softening ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  6. Spina bifida 
    ... a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube ...
    https://medlineplus.gov/genetics/condition/spina-bifida - Genetics
  7. Anencephaly 
    ... a protein that is involved in processing the vitamin folate (also called vitamin B9). While a shortage (deficiency) of this vitamin is an established risk factor for neural tube ...
    https://medlineplus.gov/genetics/condition/anencephaly - Genetics
  8. Homocystinuria 
    ... a CBS variant to have shortages (deficiencies) of vitamin B12 and folic acid. Cystathionine beta synthase deficiency ... Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? Mol Genet Metab. ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics