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PYRIDOXINE
- ... two forms of vitamin B6 obtained from food (pyridoxine and pyridoxamine) to create pyridoxal 5'-phosphate (PLP). ... pyridoxal 5-prime-phosphate synthetase pyridoxamine-phosphate oxidase pyridoxine 5'-phosphate oxidase Tests of PNPO PubMed PYRIDOXAMINE ...
- ... the ALDH7A1 gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific ... as Glu399Gln or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A ...
- ... May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998 ...
- ... NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999 ...