Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Reference5 articles.
1. Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy
2. The difference between rare and exceptionally rare: molecular characterization of ribose 5 phosphate isomerase deficiency;Wamelink;J Mol Med,2010
3. Leukoencephalopathy associated with a disturbance in the metabolism of polyols
4. Capillary Gas Chromatography Combined with Ion Trap Detection for Quantitative Profiling of Polyols in Cerebrospinal Fluid and Plasma
5. Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method
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