Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

BACKGROUND & AIMS: Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole-exome sequencing (WES) to examine genetics in a patient with a distinct severe form of protein-losing enteropathy (PLE) characterized by hypoproteinemia, hypoalb...

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Detalhes bibliográficos
Publicado no:Cell Mol Gastroenterol Hepatol
Main Authors: Elkadri, Abdul, Thoeni, Cornelia, Deharvengt, Sophie J., Murchie, Ryan, Guo, Conghui, Stavropoulos, James D., Marshall, Christian R., Wales, Paul, Bandsma, Robert H.J., Cutz, Ernest, Roifman, Chaim M., Chitayat, David, Avitzur, Yaron, Stan, Radu V., Muise, Aleixo M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4507283/
https://ncbi.nlm.nih.gov/pubmed/26207260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcmgh.2015.05.001
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