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Results 21 - 30 of 41 for vitamin C
  1. Biotin-thiamine-responsive basal ganglia disease 
    ... into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. In ... on PubMed Central Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  2. Methylmalonic acidemia 
    ... mutase. Specifically, these proteins help produce and regulate vitamin B12, which methylmalonyl-CoA mutase ... Almasi T, Guey LT, Lukacs C, Csetneki K, Voko Z, Zelei T. Systematic literature ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
  3. PURA syndrome 
    ... sexual development (precocious puberty) or low levels of vitamin D (which is a hormone). ... Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  4. Multiple sclerosis 
    ... to the Epstein-Barr virus, low levels of vitamin D, and smoking.The HLA-DRB1 gene belongs to a family of ... D, Catala-Rabasa A, Ruiz A, Gayan J, Delgado C, Arnal C, Matesanz F. Multiple sclerosis risk variant ...
    https://medlineplus.gov/genetics/condition/multiple-sclerosis - Genetics
  5. Nonketotic hyperglycinemia 
    ... molecule is added to and used by a vitamin called folate. Folate is required for many functions in the ... CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodriguez-Pombo P, Vaisanen ML, Spector ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  6. X-linked chondrodysplasia punctata 1 
    ... chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in ... N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  7. Warfarin resistance 
    ... The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme ... D, Qasim H, Sominsky S, Lubetsky A, Markovits N, Li C, Stein CM, Halkin H, Gak E, Loebstein R. ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
  8. Microphthalmia 
    ... early development, such as a shortage of certain vitamins during pregnancy, radiation, infections such as rubella, or ... De Cordoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P. Analysis of the developmental SIX6 homeobox ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  9. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... and poor absorption of fats and fat-soluble vitamins. Liver problems, short stature, and delayed ... Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Breheret F, Brunelle P, Caillon F, Chabrol B, ...
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics
  10. Riboflavin transporter deficiency neuronopathy 
    ... for absorbing riboflavin during digestion so that the vitamin can be used in the body. The RFVT2 ... JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
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