. . . . . "PRPS1" . . . . "Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)" . . . . "2018-04-05T10:17:11.353+02:00"^^ . . . . . .