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 presenting with Leigh-like syndrome and review the diagnosti...

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Detalles Bibliográficos
Publicado en:J Clin Med
Main Authors: Bugiardini, Enrico, Pope, Simon, Feichtinger, René G., Poole, Olivia V., Pittman, Alan M., Woodward, Cathy E., Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A., Hanna, Michael G., Pitceathly, Robert D.S.
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2019
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679130/
https://ncbi.nlm.nih.gov/pubmed/31288420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8070991
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