Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic d...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
Soggetti:
Short Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895572/
https://ncbi.nlm.nih.gov/pubmed/31844627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100537
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