Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 4 publications
Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.
Journal: Neurology
Published: September 05, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 19, 2024
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Journal: Orphanet journal of rare diseases
Published: June 17, 2021
Plasmid-encoded proinsulin preserves C-peptide while specifically reducing proinsulin-specific CD8⁺ T cells in type 1 diabetes.
Journal: Science translational medicine
Published: June 28, 2013
Showing 1-4 of 4
Last Updated: 09/26/2026