Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

We report the second case of RPID with a novel homozygous missense mutation.

Source: Neurology - September 11, 2017 Category: Neurology Authors: Naik, N., Shah, A., Wamelink, M. M. C., van der Knaap, M. S., Hingwala, D. Tags: MRS CLINICAL/SCIENTIFIC NOTES Source Type: research