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Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analy...
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| Veröffentlicht in: | JIMD Rep |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer Berlin Heidelberg
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5585109/ https://ncbi.nlm.nih.gov/pubmed/27900673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_21 |
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