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".ALPHA.-TOCOPHEROL" OR CYANOCOBALAMIN OR Niacin OR PYRIDOXINE OR Riboflavin OR THIAMINE ION OR Vitamin A OR Vitamin D
- ... for Rare Disorders (NORD) ClinicalTrials.gov ATAXIA WITH VITAMIN E DEFICIENCY; AVED PubMed Bromley D, Anderson PC, Daggett V. Structural consequences of mutations to the alpha-tocopherol transfer protein associated with the neurodegenerative disease ataxia ...
- ... progresses more slowly. More About This Health Condition alpha-tocopherol transfer ... Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, ...
- ... protein called a thiamine transporter, which moves a vitamin called thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet. It is ...
- ... RFT3). This protein moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane. The RFVT2 protein is found at especially high levels in cells of the brain and spinal cord and is important for absorbing riboflavin from the bloodstream into these tissues.In the ...
- ... a thiamine transporter, which moves thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet and is ... in a protein with impaired ability to transport thiamine into cells, ... of the vitamin and leading to neurological dysfunction. In this disorder, ...
- ... surface of cells, where it works to bring vitamin B1 (thiamine) into cells. Thiamine helps the body convert carbohydrates ... of the heart, muscles, and nervous system. This vitamin must be obtained from the diet because the body cannot produce thiamine on its own. Many different foods contain thiamine, ...
- ... anemia can be treated with high doses of vitamin B1 (thiamine).People with thiamine-responsive megaloblastic anemia syndrome develop ...
- ... these features are related to a deficiency of vitamin B3 (niacin) and one of its main components, the amino ...
- ... transported by B0AT1, tryptophan, is needed to produce vitamin B3 (also known as niacin).SLC6A19 gene mutations result in the production of a B0AT1 protein with reduced activity. As a result, specific amino acids ... acids and vitamins. However, individuals who are nutrient-deficient due to ...
- ... C, Der Kaloustian V, Kaiser-Kupfer M, Valle D. An initiator codon mutation in ... H. Vitamin B6-responsive ornithine aminotransferase deficiency with a novel ...
