Condition: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)


rs371271054 in TPK1 gene and THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) PMID 22152682 2011 Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.