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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...
Shranjeno v:
| izdano v: | AJNR Am J Neuroradiol |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society of Neuroradiology
2003
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7973678/ https://ncbi.nlm.nih.gov/pubmed/12917150 |
| Oznake: |
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