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Results 41 - 50 of 87 for vitamin D
  1. HCFC1 gene 
    ... X-linked disability, but does not severely impact vitamin B12 processing. CFF HCF HCF-1 ... Gerard M, Morin G, Bourillon A, Colson C, Mathieu S, Rabier D, Billette de Villemeur T, Ogier de Baulny H, ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  2. Cerebral folate transport deficiency 
    ... Free article on PubMed Central Toelle SP, Wille D, Schmitt B, Scheer I, Thony B, Plecko B. Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. Epileptic Disord. 2014 Mar;16(1):88-92. doi: 10.1684/epd.2014.0629. Citation on PubMed
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  3. Chylomicron retention disease 
    ... T, Laforet P, Grodet A, Peretti N, Menard D, Djouadi F, Jardel C, Begue JM, Walker ... 2008 Sep 11. Citation on PubMed
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
  4. Homocystinuria 
    ... a CBS variant to have shortages (deficiencies) of vitamin B12 and folic acid. ... Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  5. Hereditary folate malabsorption 
    ... A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID. The spectrum of ... or Free article on PubMed Central
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  6. OAT gene 
    ... C, Der Kaloustian V, Kaiser-Kupfer M, Valle D. An initiator codon mutation in ... H. Vitamin B6-responsive ornithine aminotransferase deficiency with a novel ...
    https://medlineplus.gov/genetics/gene/oat - Genetics
  7. HSD3B7 gene 
    ... build up in the liver and fat-soluble vitamins are not absorbed, leading to the signs and symptoms of congenital bile acid ... Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW. Molecular genetics ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  8. SLC19A2 gene 
    ... without the help of a transporter when the vitamin is present in large amounts.It remains unclear exactly how variants ... Baron D, Assaraf YG, Cohen N, Aronheim A. Lack of ...
    https://medlineplus.gov/genetics/gene/slc19a2 - Genetics
  9. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... features of APECED, such as CMC, hypoparathyroidism, or vitamin B12 deficiency, but do not have the full pattern of ... or Free article on PubMed Central De Martino L, Capalbo D, Improda N, D'Elia F, Di Mase R, ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  10. Transcobalamin deficiency 
    ... Jul 6. Citation on PubMed Prasad C, Rosenblatt DS, Corley K, ... 2014 Feb 22. Citation on PubMed
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
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