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Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A. Bjursell MK, et al. Among authors: wedell a. Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28. Am J Hum Genet. 2011. PMID: 21963049 Free PMC article.
Adenosine Kinase Deficiency: Report and Review.
Alhusani A, Obaid A, Blom HJ, Wedell A, Alfadhel M. Alhusani A, et al. Among authors: wedell a. Neuropediatrics. 2019 Feb;50(1):46-50. doi: 10.1055/s-0038-1676053. Epub 2018 Nov 26. Neuropediatrics. 2019. PMID: 30477030 Review.
Disorders of sex development.
Barbaro M, Wedell A, Nordenström A. Barbaro M, et al. Among authors: wedell a. Semin Fetal Neonatal Med. 2011 Apr;16(2):119-27. doi: 10.1016/j.siny.2011.01.001. Semin Fetal Neonatal Med. 2011. PMID: 21303737 Review.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Kishita Y, et al. Among authors: wedell a. Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522469 Free PMC article.
161 results