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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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Bibliographische Detailangaben
Veröffentlicht in:JIMD Rep
Hauptverfasser: Cappuccio, Gerarda, Atwal, Paldeep S., Donti, Taraka R., Ugarte, Kiki, Merchant, Nadia, Craigen, William J., Sutton, V. Reid, Elsea, Sarah H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2016
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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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