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In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency

Summary: We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency. Abnormalities of brain development consistent...

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Bibliografske podrobnosti
izdano v:AJNR Am J Neuroradiol
Main Authors: Zand, Dina J., Simon, Erin M., Pulitzer, Steven B., Wang, D.J., Wang, Z.J., Rorke, Lucy B., Palmieri, Michael, Berry, Gerard T.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Neuroradiology 2003
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7973678/
https://ncbi.nlm.nih.gov/pubmed/12917150
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