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Familial Dystonia Due to Homozygous TPI1 c.718G>A (p.Glu240Lys): A Three-Sibling Case Series Including Two Treated with Deep Brain Stimulation of the Globus Pallidus Internus.
Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.
TPI deficiency: A case report and review of the literature.
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.