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Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

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author: Renzo Guerrini  Manuela Tolve  Martino Montomoli  Martino Luigi di Salvo  Mario Mastrangelo  Angela Tramonti  Roberto Contestabile 

Publication date August 12, 2017
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