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Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Among authors: frishberg y. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Belostotsky R, et al. Among authors: frishberg y. Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023. Am J Hum Genet. 2010. PMID: 20797690 Free PMC article.
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y. Belostotsky R, et al. Among authors: frishberg y. Am J Hum Genet. 2011 Feb 11;88(2):193-200. doi: 10.1016/j.ajhg.2010.12.010. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255763 Free PMC article.
101 results