The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency

@article{Wamelink2010TheDB,
  title={The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency},
  author={Mirjam M C Wamelink and Nana-Maria Gr{\"u}ning and Erwin E. W. Jansen and Katharina Bluemlein and Hans Lehrach and Cornelis Jakobs and Markus Ralser},
  journal={Journal of Molecular Medicine},
  year={2010},
  volume={88},
  pages={931-939}
}
Ribose 5-phosphate isomerase (RPI) deficiency is an enzymopathy of the pentose phosphate pathway. It manifests with progressive leukoencephalopathy and peripheral neuropathy and belongs, with one sole diagnosed case, to the rarest human disorders. The single patient was found compound heterozygous for a RPI frameshift and a missense (RPIAla61Val) allele. Here, we report that two patient-derived cell lines differ in RPI enzyme activity, enzyme concentration, and mRNA expression. Furthermore, we… 
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