{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:26:33Z","timestamp":1786980393486,"version":"build-2736575974"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100011103","name":"Rann\u00eds","doi-asserted-by":"publisher","award":["217707-051"],"award-info":[{"award-number":["217707-051"]}],"id":[{"id":"10.13039\/501100011103","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National University Hospital of Iceland"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1007\/s00467-026-07187-9","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:44:11Z","timestamp":1773362651000},"page":"3263-3273","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria"],"prefix":"10.1007","volume":"41","author":[{"given":"Vidar O.","family":"Edvardsson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hrafnhildur L.","family":"Runolfsdottir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Runolfur","family":"Palsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"7187_CR1","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1053\/ajkd.2001.26826","volume":"38","author":"V Edvardsson","year":"2001","unstructured":"Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T (2001) Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 38:473\u2013480","journal-title":"Am J Kidney Dis"},{"key":"7187_CR2","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1681\/ASN.2009080808","volume":"21","author":"G Bollee","year":"2010","unstructured":"Bollee G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I (2010) Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol 21:679\u2013688","journal-title":"J Am Soc Nephrol"},{"key":"7187_CR3","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1053\/j.ajkd.2015.10.023","volume":"67","author":"HL Runolfsdottir","year":"2016","unstructured":"Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO (2016) Kidney disease in adenine phosphoribosyltransferase deficiency. Am J Kidney Dis 67:431\u2013438","journal-title":"Am J Kidney Dis"},{"key":"7187_CR4","doi-asserted-by":"publisher","first-page":"2281","DOI":"10.1172\/JCI105913","volume":"47","author":"WN Kelley","year":"1968","unstructured":"Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE (1968) Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest 47:2281\u20132289","journal-title":"J Clin Invest"},{"key":"7187_CR5","first-page":"883","volume":"279","author":"P Cartier","year":"1974","unstructured":"Cartier P, Hamet M, Hamburger J (1974) A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine. CR Acad Sci Hebd Seances Acad Sci D 279:883\u2013886","journal-title":"CR Acad Sci Hebd Seances Acad Sci D"},{"key":"7187_CR6","doi-asserted-by":"publisher","first-page":"2831","DOI":"10.1007\/s40620-025-02392-5","volume":"38","author":"HL Runolfsdottir","year":"2025","unstructured":"Runolfsdottir HL, Thorsteinsdottir UA, Johannesdottir S, Oskarsdottir T, Agustsdottir IMS, Thorsteinsdottir M, Palsson R, Edvardsson VO (2025) Comparison of the effect of allopurinol and febuxostat on 2,8-dihydroxyadenine in plasma and urine: a clinical trial. J Nephrol 38:2831\u20132839","journal-title":"J Nephrol"},{"key":"7187_CR7","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1172\/JCI113408","volume":"81","author":"Y Hidaka","year":"1988","unstructured":"Hidaka Y, Tarle SA, Fujimori S, Kamatani N, Kelley WN, Palella TD (1988) Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest 81:945\u2013950","journal-title":"J Clin Invest"},{"key":"7187_CR8","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1093\/hmg\/3.5.817","volume":"3","author":"A Sahota","year":"1994","unstructured":"Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA (1994) Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet 3:817\u2013818","journal-title":"Hum Mol Genet"},{"key":"7187_CR9","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1038\/s41431-020-00805-6","volume":"29","author":"HL Runolfsdottir","year":"2021","unstructured":"Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R (2021) Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. Eur J Hum Genet 29:1061\u20131070","journal-title":"Eur J Hum Genet"},{"key":"7187_CR10","doi-asserted-by":"publisher","first-page":"2623","DOI":"10.1111\/ajt.12926","volume":"14","author":"M Zaidan","year":"2014","unstructured":"Zaidan M, Palsson R, Merieau E, Cornec-Le Gall E, Garstka A, Maggiore U, Deteix P, Battista M, Gagne ER, Ceballos-Picot I, Duong Van Huyen JP, Legendre C, Daudon M, Edvardsson VO, Knebelmann B (2014) Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. Am J Transplant 14:2623\u20132632","journal-title":"Am J Transplant"},{"key":"7187_CR11","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1007\/s00467-018-4109-x","volume":"34","author":"HL Runolfsdottir","year":"2019","unstructured":"Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO (2019) Long-term renal outcomes of APRT deficiency presenting in childhood. Pediatr Nephrol 34:435\u2013442","journal-title":"Pediatr Nephrol"},{"key":"7187_CR12","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/j.ymgme.2019.05.015","volume":"128","author":"HL Runolfsdottir","year":"2019","unstructured":"Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO (2019) Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects. Mol Genet Metab 128:144\u2013150","journal-title":"Mol Genet Metab"},{"key":"7187_CR13","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1681\/ASN.2019080827","volume":"31","author":"BM Klinkhammer","year":"2020","unstructured":"Klinkhammer BM, Djudjaj S, Kunter U, Palsson R, Edvardsson VO, Wiech T, Thorsteinsdottir M, Hardarson S, Foresto-Neto O, Mulay SR, Moeller MJ, Jahnen-Dechent W, Floege J, Anders HJ, Boor P (2020) Cellular and molecular mechanisms of kidney injury in 2,8-dihydroxyadenine nephropathy. J Am Soc Nephrol 31:799\u2013816","journal-title":"J Am Soc Nephrol"},{"key":"7187_CR14","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ejim.2017.10.007","volume":"48","author":"VO Edvardsson","year":"2018","unstructured":"Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R (2018) Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency (APRTd): a clinical trial. Eur J Intern Med 48:75\u201379","journal-title":"Eur J Intern Med"},{"key":"7187_CR15","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.jchromb.2016.09.018","volume":"1036\u20131037","author":"M Thorsteinsdottir","year":"2016","unstructured":"Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IM, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R (2016) Quantitative UPLC-MS\/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci 1036\u20131037:170\u2013177","journal-title":"J Chromatogr B Analyt Technol Biomed Life Sci"},{"key":"7187_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2024.124041","volume":"1235","author":"UA Thorsteinsdottir","year":"2024","unstructured":"Thorsteinsdottir UA, Runolfsdottir HL, Eiriksson FF, Agustsdottir IMS, Edvardsson VO, Palsson R, Thorsteinsdottir M (2024) Optimization and validation of a UPLC-MS\/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma. J Chromatogr B Analyt Technol Biomed Life Sci 1235:124041","journal-title":"J Chromatogr B Analyt Technol Biomed Life Sci"},{"key":"7187_CR17","unstructured":"Edvardsson VO, Sahota A, Palsson R (2012 Aug 30) Adenine Phosphoribosyltransferase Deficiency [Updated 2019 Sep 26]. In: Adam MP, Bick S, Mirzaa GM et al (eds) GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK100238\/"},{"key":"7187_CR18","doi-asserted-by":"publisher","first-page":"1923","DOI":"10.1007\/s00467-012-2329-z","volume":"28","author":"VO Edvardsson","year":"2013","unstructured":"Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R (2013) Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol 28:1923\u20131942","journal-title":"Pediatr Nephrol"},{"key":"7187_CR19","doi-asserted-by":"publisher","first-page":"3349","DOI":"10.1073\/pnas.84.10.3349","volume":"84","author":"TP Broderick","year":"1987","unstructured":"Broderick TP, Schaff DA, Bertino AM, Dush MK, Tischfield JA, Stambrook PJ (1987) Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Proc Natl Acad Sci U S A 84:3349\u20133353","journal-title":"Proc Natl Acad Sci U S A"},{"key":"7187_CR20","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1172\/JCI115825","volume":"90","author":"N Kamatani","year":"1992","unstructured":"Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S (1992) Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90:130\u2013135","journal-title":"J Clin Invest"},{"key":"7187_CR21","first-page":"2571","volume-title":"The metabolic and molecular bases of inherited disease","author":"A Sahota","year":"2001","unstructured":"Sahota A, Tischfield J, Kamatani N, Simmonds H (2001) Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: Scriver CRBA, Sly WS, Valle D, Vogelstein B, Childs B (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, NY, pp 2571\u20132584"},{"key":"7187_CR22","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/BF00591080","volume":"75","author":"N Kamatani","year":"1987","unstructured":"Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K (1987) Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet 75:163\u2013168","journal-title":"Hum Genet"},{"key":"7187_CR23","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1093\/ndt\/gfp711","volume":"25","author":"SH Nasr","year":"2010","unstructured":"Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, Fidler ME (2010) Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant 25:1909\u20131915","journal-title":"Nephrol Dial Transplant"},{"key":"7187_CR24","doi-asserted-by":"publisher","first-page":"2120","DOI":"10.1097\/TP.0000000000003088","volume":"104","author":"HL Runolfsdottir","year":"2020","unstructured":"Runolfsdottir HL, Palsson R, Agustsdottir IMS, Indridason OS, Li J, Dao M, Knebelmann B, Milliner DS, Edvardsson VO (2020) Kidney transplant outcomes in patients with adenine phosphoribosyltransferase deficiency. Transplantation 104:2120\u20132128","journal-title":"Transplantation"},{"key":"7187_CR25","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1053\/j.ajkd.2025.03.023","volume":"86","author":"MA Baum","year":"2025","unstructured":"Baum MA, Mandel M, Somers MJG (2025) Understanding rare kidney stone diseases: a review. Am J Kidney Dis 86:236\u2013244","journal-title":"Am J Kidney Dis"},{"key":"7187_CR26","doi-asserted-by":"publisher","first-page":"5307","DOI":"10.1073\/pnas.93.11.5307","volume":"93","author":"SJ Engle","year":"1996","unstructured":"Engle SJ, Stockelman MG, Chen J, Boivin G, Yum MN, Davies PM, Ying MY, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA (1996) Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci U S A 93:5307\u20135312","journal-title":"Proc Natl Acad Sci U S A"},{"key":"7187_CR27","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.1089\/hum.1996.7.13-1491","volume":"7","author":"NJ Redhead","year":"1996","unstructured":"Redhead NJ, Selfridge J, Wu CL, Melton DW (1996) Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. Hum Gene Ther 7:1491\u20131502","journal-title":"Hum Gene Ther"},{"key":"7187_CR28","first-page":"F154","volume":"275","author":"MG Stockelman","year":"1998","unstructured":"Stockelman MG, Lorenz JN, Smith FN, Boivin GP, Sahota A, Tischfield JA, Stambrook PJ (1998) Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. Am J Physiol 275:F154\u2013F163","journal-title":"Am J Physiol"},{"key":"7187_CR29","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1046\/j.1523-1755.2001.060003910.x","volume":"60","author":"AP Evan","year":"2001","unstructured":"Evan AP, Bledsoe SB, Connors BA, Deng L, Liang L, Shao C, Fineberg NS, Grynpas MD, Stambrook PJ, Youzhi S, Sahota A, Tischfield JA (2001) Sequential analysis of kidney stone formation in the Aprt knockout mouse. Kidney Int 60:910\u2013923","journal-title":"Kidney Int"},{"key":"7187_CR30","doi-asserted-by":"publisher","first-page":"2227","DOI":"10.1038\/sj.ki.5000268","volume":"69","author":"AP Evan","year":"2006","unstructured":"Evan AP, Coe FL, Lingeman JE, Shao Y, Matlaga BR, Kim SC, Bledsoe SB, Sommer AJ, Grynpas M, Phillips CL, Worcester EM (2006) Renal crystal deposits and histopathology in patients with cystine stones. Kidney Int 69:2227\u20132235","journal-title":"Kidney Int"},{"key":"7187_CR31","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1038\/ki.2013.207","volume":"84","author":"F Knauf","year":"2013","unstructured":"Knauf F, Asplin JR, Granja I, Schmidt IM, Moeckel GW, David RJ, Flavell RA, Aronson PS (2013) NALP3-mediated inflammation is a principal cause of progressive renal failure in oxalate nephropathy. Kidney Int 84:895\u2013901","journal-title":"Kidney Int"},{"key":"7187_CR32","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1172\/JCI63679","volume":"123","author":"SR Mulay","year":"2013","unstructured":"Mulay SR, Kulkarni OP, Rupanagudi KV, Migliorini A, Darisipudi MN, Vilaysane A, Muruve D, Shi Y, Munro F, Liapis H, Anders HJ (2013) Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1beta secretion. J Clin Invest 123:236\u2013246","journal-title":"J Clin Invest"},{"key":"7187_CR33","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.kint.2016.03.035","volume":"90","author":"I Ludwig-Portugall","year":"2016","unstructured":"Ludwig-Portugall I, Bartok E, Dhana E, Evers BD, Primiano MJ, Hall JP, Franklin BS, Knolle PA, Hornung V, Hartmann G, Boor P, Latz E, Kurts C (2016) An NLRP3-specific inflammasome inhibitor attenuates crystal-induced kidney fibrosis in mice. Kidney Int 90:525\u2013539","journal-title":"Kidney Int"},{"key":"7187_CR34","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1007\/s00467-011-2037-0","volume":"27","author":"J Harambat","year":"2012","unstructured":"Harambat J, Bollee G, Daudon M, Ceballos-Picot I, Bensman A (2012) Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol 27:571\u2013579","journal-title":"Pediatr Nephrol"},{"key":"7187_CR35","first-page":"93","volume":"213","author":"A Neetens","year":"1986","unstructured":"Neetens A, Van Acker KJ, Marien N (1986) Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency. Bull Soc Belge Ophtalmol 213:93\u201397","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"7187_CR36","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1006\/geno.1994.1080","volume":"19","author":"I Gantz","year":"1994","unstructured":"Gantz I, Yamada T, Tashiro T, Konda Y, Shimoto Y, Miwa H, Trent JM (1994) Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24.3 by fluorescence in situ hybridization. Genomics 19:394\u2013395","journal-title":"Genomics"},{"key":"7187_CR37","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1007\/BF00442515","volume":"138","author":"MC Greenwood","year":"1982","unstructured":"Greenwood MC, Dillon MJ, Simmonds HA, Barratt TM, Pincott JR, Metreweli C (1982) Renal failure due to 2,8-dihydroxyadenine urolithiasis. Eur J Pediatr 138:346\u2013349","journal-title":"Eur J Pediatr"},{"key":"7187_CR38","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1203\/00006450-197608000-00014","volume":"10","author":"H Debray","year":"1976","unstructured":"Debray H, Cartier P, Temstet A, Cendron J (1976) Child\u2019s urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase. Pediatr Res 10:762\u2013766","journal-title":"Pediatr Res"},{"key":"7187_CR39","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/0009-8981(88)90318-X","volume":"172","author":"P Chiba","year":"1988","unstructured":"Chiba P, Zwiauer K, Muller MM (1988) Characterization of an adenine phosphoribosyltransferase deficiency. Clin Chim Acta 172:141\u2013147","journal-title":"Clin Chim Acta"},{"key":"7187_CR40","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1007\/s00240-020-01187-6","volume":"48","author":"HL Runolfsdottir","year":"2020","unstructured":"Runolfsdottir HL, Lin TL, Goldfarb DS, Sayer JA, Michael M, Ketteridge D, Rich PR, Edvardsson VO, Palsson R (2020) Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. Urolithiasis 48:337\u2013344","journal-title":"Urolithiasis"},{"key":"7187_CR41","doi-asserted-by":"crossref","unstructured":"Bramley R, Herrera D, Barski R, Henderson M (2025) Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency. Ann Clin Biochem 14:45632251367232","DOI":"10.1177\/00045632251367232"},{"key":"7187_CR42","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01026-6","volume":"14","author":"J Jung","year":"2021","unstructured":"Jung J, Lee JH, Park YS, Seo GH, Keum C, Kang HG, Lee H, Lee SK, Lee ST, Cho H, Lee BH (2021) Ultra-rare renal diseases diagnosed with whole-exome sequencing: utility in diagnosis and management. BMC Med Genomics 14:177","journal-title":"BMC Med Genomics"},{"key":"7187_CR43","first-page":"26","volume":"31","author":"L Coupris","year":"1990","unstructured":"Coupris L, Champion G, Duverne C, Varlet F, Ratajczak A (1990) 2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy. Chir Pediatr 31:26\u201331","journal-title":"Chir Pediatr"},{"key":"7187_CR44","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1007\/s00467-022-05684-1","volume":"38","author":"W Hayes","year":"2023","unstructured":"Hayes W, Sas DJ, Magen D, Shasha-Lavsky H, Michael M, Sellier-Leclerc AL, Hogan J, Ngo T, Sweetser MT, Gansner JM, McGregor TL, Frishberg Y (2023) Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial. Pediatr Nephrol 38:1075\u20131086","journal-title":"Pediatr Nephrol"},{"key":"7187_CR45","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2024.102437","volume":"36","author":"B Xiao","year":"2025","unstructured":"Xiao B, Wang S, Pan Y, Zhi W, Gu C, Guo T, Zhai J, Li C, Chen YQ, Wang R (2025) Development, opportunities, and challenges of siRNA nucleic acid drugs. Mol Ther Nucleic Acids 36:102437","journal-title":"Mol Ther Nucleic Acids"},{"key":"7187_CR46","doi-asserted-by":"publisher","first-page":"938","DOI":"10.3390\/pharmaceutics16070938","volume":"16","author":"H Sun","year":"2024","unstructured":"Sun H, Wang X, Li Y, Shen Y, Zhang L, Xu Y, Liu J, Fan X (2024) Targeting liver Xor by GalNAc-siRNA is an effective strategy for hyperuricemia therapy. Pharmaceutics 16:938","journal-title":"Pharmaceutics"},{"key":"7187_CR47","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1016\/j.cell.2024.01.042","volume":"187","author":"M Pacesa","year":"2024","unstructured":"Pacesa M, Pelea O, Jinek M (2024) Past, present, and future of CRISPR genome editing technologies. Cell 187:1076\u20131100","journal-title":"Cell"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07187-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-026-07187-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07187-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:47:33Z","timestamp":1786978053000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-026-07187-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,13]]},"references-count":47,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["7187"],"URL":"https:\/\/doi.org\/10.1007\/s00467-026-07187-9","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,13]]},"assertion":[{"value":"19 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 January 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}