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Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children.
Nagasaka H, Yorifuji T, Bandsma RH, Takatani T, Asano H, Mochizuki H, Takuwa M, Tsukahara H, Inui A, Tsunoda T, Komatsu H, Hiejima E, Fujisawa T, Hirano K, Miida T, Ohtake A, Taguchi T, Miwa I. Nagasaka H, et al. J Inherit Metab Dis. 2013 Jan;36(1):75-81. doi: 10.1007/s10545-012-9514-x. Epub 2012 Sep 13. J Inherit Metab Dis. 2013. PMID: 22971957
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM. Elkadri A, et al. Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. doi: 10.1016/j.jcmgh.2015.05.001. Cell Mol Gastroenterol Hepatol. 2015. PMID: 26207260 Free PMC article.
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM. Moran CJ, et al. Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974. Inflamm Bowel Dis. 2013. PMID: 22550014 Free PMC article.
127 results