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Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Bollée G, et al. Among authors: bensman a. Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. doi: 10.2215/CJN.02320312. Epub 2012 Jun 14. Clin J Am Soc Nephrol. 2012. PMID: 22700886 Review.
Adenine phosphoribosyltransferase deficiency in children.
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group. Harambat J, et al. Among authors: bensman a. Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3. Pediatr Nephrol. 2012. PMID: 22212387
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. Among authors: bensman a. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. De Rechter S, et al. Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep. Kidney Int Rep. 2019. PMID: 31517146 Free PMC article.
201 results