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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2019
Teme:
Case Report
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki