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1 - 2 of 2 results found for TPK1. Did you mean: tp1

  1. TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome

  2. Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

    TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of TPK1-related disease

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