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Results 1 - 5 of 5 for Abnormality of vitamin C metabolism
  1. Methylmalonic acidemia with homocystinuria 
    ... in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157. Citation on PubMed Rutsch F, ... 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. Biotin-thiamine-responsive basal ganglia disease 
    ... BBGD Biotin-responsive basal ganglia disease BTBGD Thiamine metabolism dysfunction syndrome 2 Thiamine transporter-2 deficiency Thiamine- ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  3. Chylomicron retention disease 
    ... Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 2015 May;56(5):945- ... the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008 Dec;74(6):546-52. ...
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
  4. Imerslund-Gräsbeck syndrome 
    ... from patients with inborn errors of vitamin B12 metabolism. Biochimie. 2013 May;95(5):1019-22. doi: ...
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
  5. Homocystinuria 
    ... Watkins D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitam Horm. 2022;119:355-376. doi: 10. ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics