P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease

Bibliographic Details
Published in:Genetics in Medicine Open
Main Authors: Jennifer Harmon, Olivier Fortin, Jason Schroeder, Laura Tochen, Jamie Fraser
Format: Article
Language:English
Published: Elsevier 2024-01-01
Online Access:http://www.sciencedirect.com/science/article/pii/S294977442400044X