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Subcutaneous nodules in a child on long-term dialysis.
El-Desoky SM, Bockenhauer D, Shroff R, Kari JA. El-Desoky SM, et al. Pediatr Nephrol. 2014 Jul;29(7):1175-9. doi: 10.1007/s00467-013-2571-z. Epub 2013 Aug 30. Pediatr Nephrol. 2014. PMID: 23989395 No abstract available.
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. Ashraf S, et al. Among authors: kari ja. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270420 Free PMC article.
Steroid-resistant nephrotic syndrome: impact of genetic testing.
Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D. Kari JA, et al. Ann Saudi Med. 2013 Nov-Dec;33(6):533-8. doi: 10.5144/0256-4947.2013.533. Ann Saudi Med. 2013. PMID: 24413855 Free PMC article.
The case | Renal tubular acidosis and eye findings.
Kari JA, El Desoky SM, Singh AK, Gari MA, Kleta R, Bockenhauer D. Kari JA, et al. Kidney Int. 2014 Jul;86(1):217-8. doi: 10.1038/ki.2013.320. Kidney Int. 2014. PMID: 24978391 Free article. No abstract available.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. Among authors: kari ja. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
211 results