12 top medical experts on Ribose 5-Phosphate Isomerase Deficiency across 2 countries and 1 U.S. states, including 2 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Ribose 5-Phosphate Isomerase Deficiency: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
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