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Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH. Richards A, et al. Among authors: filler g. Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. doi: 10.1073/pnas.2135497100. Epub 2003 Oct 17. Proc Natl Acad Sci U S A. 2003. PMID: 14566051 Free PMC article.
Management of severe polyuria in idiopathic Fanconi syndrome.
Filler G, Geda R, Salerno F, Zhang YC, de Ferris MED, McIntyre CW. Filler G, et al. Pediatr Nephrol. 2021 Nov;36(11):3621-3626. doi: 10.1007/s00467-021-05213-6. Epub 2021 Aug 24. Pediatr Nephrol. 2021. PMID: 34427794
388 results