- Article
Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G
- Joseph R. Figura,
- Presley Roberts,
- Riley Sawka,
- Maci Chambers,
- Marcelo Claudio,
- Laura L. Vollmer,
- Andreas Vogt,
- Gregg E. Homanics,
- Eduard van Beers and
- Michael J. Palladino
- + 5 authors
Background/Objectives: Triosephosphate Isomerase (TPI) is a glycolytic enzyme known to be associated with TPI deficiency, a severe form of childhood-onset glycolytic enzymopathy associated with hemolytic anemia, neuromuscular impairment and early dea...