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Results 11 - 20 of 87 for vitamin e
  1. Holocarboxylase synthetase deficiency 
    ... Baumgartner MR. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handb Clin Neurol. 2013;113:1799-810. doi: ...
    https://medlineplus.gov/.../holocarboxylase-synthetase-deficiency - Genetics
  2. Progressive familial intrahepatic cholestasis 
    ... pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically ...
    https://medlineplus.gov/...ressive-familial-intrahepatic-cholestasis - Genetics
  3. TCN2 gene 
    ... ClinVar Nielsen MJ, Rasmussen MR, Andersen CB, Nexo E, Moestrup SK. Vitamin B12 transport from food to the body's cells--a sophisticated, multistep pathway. Nat Rev Gastroenterol Hepatol. 2012 May ... M, Hoffmann-Lucke E, Sorensen BS, Nexo E. Transcobalamin deficiency caused by ...
    https://medlineplus.gov/genetics/gene/tcn2 - Genetics
  4. Pyridoxine-dependent epilepsy 
    ... Disorders (NORD) ClinicalTrials.gov EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4 PubMed Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Pyridoxine-dependent ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  5. VKORC1 gene 
    ... complex, subunit 1 VKOR Tests of VKORC1 PubMed VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1 NCBI Gene ClinVar Ferder NS, Eby CS, Deych E, Harris JK, Ridker PM, Milligan PE, Goldhaber SZ, ...
    https://medlineplus.gov/genetics/gene/vkorc1 - Genetics
  6. CYP27B1 gene 
    ... Y. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A. PLoS One. 2015 Jul 1;10(7):e0131376. doi: 10.1371/journal.pone.0131376. eCollection 2015. Citation on PubMed or Free article on PubMed Central Durmaz E, Zou M, Al-Rijjal RA, Bircan I, Akcurin ...
    https://medlineplus.gov/genetics/gene/cyp27b1 - Genetics
  7. Idiopathic infantile hypercalcemia 
    ... exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. Am J Kidney Dis. 2015 Jan;65(1):122-6. doi: 10.1053/j.ajkd.2014.06.037. Epub 2014 Nov 4. Citation on PubMed Pronicka E, Ciara E, Halat P, Janiec A, Wojcik M, ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  8. MMAA gene 
    ... JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  9. Vitamin D-dependent rickets 
    ... binding to hormone response elements: a cause of vitamin D resistance. Proc Natl Acad Sci U S A. 2003 May 13;100(10):6109-14. doi: 10.1073/pnas.1031395100. Epub 2003 Apr 25. Citation on PubMed or Free article on PubMed Central Durmaz E, Zou M, Al-Rijjal RA, Bircan I, Akcurin ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  10. SLC34A1 gene 
    ... a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D ... I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics
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