Thymidine Kinase 2 Deficiency (TK2d) Latest Advances

Find the Latest Research About Thymidine Kinase 2 Deficiency (TK2d)

Last Updated: 09/26/2026

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Found 89 publications

Management of patients with thymidine kinase 2 deficiency: where are we now?

Management of patients with thymidine kinase 2 deficiency: where are we now?

Journal: Expert opinion on pharmacotherapy
Published: August 15, 2026

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: June 23, 2026

Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort.

Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort.

Journal: Journal of neuromuscular diseases
Published: May 20, 2026

Clinical development in primary mitochondrial diseases at a translational inflection point: Lessons, mechanisms, and emerging therapeutic strategies.

Clinical development in primary mitochondrial diseases at a translational inflection point: Lessons, mechanisms, and emerging therapeutic strategies.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: April 21, 2026

Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?

Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?

Journal: Cell metabolism
Published: April 18, 2026

Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy.

Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy.

Journal: Journal of neuromuscular diseases
Published: April 07, 2026

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Journal: Therapeutic advances in rare disease
Published: January 14, 2026

Patients' lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study.

Patients' lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study.

Journal: Therapeutic advances in rare disease
Published: December 09, 2025

2000-2025: Emerging therapies in primary mitochondrial disease: A structured review, horizon scan, and roadmap for the future.

2000-2025: Emerging therapies in primary mitochondrial disease: A structured review, horizon scan, and roadmap for the future.

Journal: Therapeutic advances in rare disease
Published: December 06, 2025

Doxecitine and Doxribtimine: First Approval.

Doxecitine and Doxribtimine: First Approval.

Journal: Paediatric drugs
Published: November 23, 2025

Effect of Renal Impairment on the Pharmacokinetics and Safety of Doxecitine and Doxribtimine: A Single-Dose Phase 1 Study.

Effect of Renal Impairment on the Pharmacokinetics and Safety of Doxecitine and Doxribtimine: A Single-Dose Phase 1 Study.

Journal: Clinical pharmacology in drug development
Published: October 07, 2025

First case of schizophrenia and OCD in TK2-related mitochondrial DNA depletion myopathy: a case report.

First case of schizophrenia and OCD in TK2-related mitochondrial DNA depletion myopathy: a case report.

Journal: BMC psychiatry
Published: September 22, 2025
Showing 1-12 of 89

Last Updated: 09/26/2026