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The Disease Course of Untreated Patients with Thymidine Kinase 2 Deficiency (TK2d) Aged ≤12 Years at TK2d Symptom Onset: Findings from the Largest International TK2d Dataset (P10-6.007)

Year: 2025

Type: article

Source: Neurology

DOI: 10.1212/wnl.0000000000211173

Authors: Michio Hirano, Andrés Nascimento Osorio, Yuanjun Ma, Nada Boudiaf, Richard Kim, Susan VanMeter, Marcus Brunnert, Cristina Domínguez-González

Institutions: Columbia University Irving Medical Center, Hospital Sant Joan de Déu Barcelona, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, UCB Pharma (United Kingdom), UCB Pharma (Germany), Research Institute Hospital 12 de Octubre, Hospital Universitario 12 De Octubre

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4409226653

FWCI: 1.022

Cites:

Cited by: 2

Related to: 10