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• W2988395836 abstract "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 decompensation and another with cardiogenic shock. PA can present with life-threatening metabolic decompensation or an adult-onset severe cardiomyopathy. We discuss critical clinical implications of this observation." @default.
• W2988395836 created "2019-11-22" @default.
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• W2988395836 date "2019-12-01" @default.
• W2988395836 modified "2023-10-18" @default.
• W2988395836 title "Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant" @default.
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• W2988395836 doi "https://doi.org/10.1016/j.ymgmr.2019.100537" @default.
• W2988395836 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6895572" @default.
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