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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Vydáno v:AJNR Am J Neuroradiol
Hlavní autoři: Zand, Dina J., Simon, Erin M., Pulitzer, Steven B., Wang, D.J., Wang, Z.J., Rorke, Lucy B., Palmieri, Michael, Berry, Gerard T.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Neuroradiology 2003
Témata:
Pediatric
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7973678/
https://ncbi.nlm.nih.gov/pubmed/12917150
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