Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 131

1.

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.

BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102.

2.

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A.

Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17.

PMID:
21635362
3.

[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].

Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M.

Hinyokika Kiyo. 2012 Jul;58(7):15-9. Japanese.

PMID:
22988602
4.

Adenine phosphoribosyltransferase deficiency.

Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I.

Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Review.

5.

[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].

Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M.

Hinyokika Kiyo. 2011 Jan;57(1):15-9. Japanese. Erratum in: Hinyokika Kiyo. 2012 Jul;58(7):365.

6.

An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.

Furrow E, Pfeifer RJ, Osborne CA, Lulich JP.

Mol Genet Metab. 2014 Mar;111(3):399-403. doi: 10.1016/j.ymgme.2013.12.002. Epub 2013 Dec 11.

7.

2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Review.

PMID:
24940675
8.

Adenine phosphoribosyltransferase deficiency in children.

Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group.

Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3.

PMID:
22212387
10.

[2,8-dihydroxyadenine urolithiasis: case report and literature review].

Arancio M, Ranzoni S, Delsignore A, Landi G, Maffei N, Marcato M, Mina A, Martinengo C.

Urologia. 2011 Oct-Dec;78(4):305-9. doi: 10.5301/RU.2011.8307. Review. Italian.

PMID:
21553389
11.

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Taniguchi A.

Nihon Rinsho. 2008 Apr;66(4):784-8. Review. Japanese.

PMID:
18409532
12.

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.

Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S.

Pediatr Nephrol. 2010 Jun;25(6):1173-6. doi: 10.1007/s00467-009-1430-4. Epub 2010 Jan 26.

PMID:
20101413
13.

[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report].

Ohne T, Fujito A, Koga K, Imaide Y, Uchida M.

Hinyokika Kiyo. 1998 Oct;44(10):725-8. Review. Japanese.

14.

[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report].

Shiba M, Shimizu K, Takatera H.

Hinyokika Kiyo. 2003 Aug;49(8):497-9. Japanese.

15.

Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IM, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:170-177. doi: 10.1016/j.jchromb.2016.09.018. Epub 2016 Sep 14.

16.

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO.

Am J Kidney Dis. 2016 Mar;67(3):431-8. doi: 10.1053/j.ajkd.2015.10.023. Epub 2015 Dec 25.

17.

[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].

Konishi N, Takeshita K, Yasui H.

Nihon Jinzo Gakkai Shi. 1994 Oct;36(10):1191-5. Review. Japanese.

PMID:
7815752
19.

Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.

Chong SL, Ng YH.

World J Pediatr. 2016 May;12(2):243-5. doi: 10.1007/s12519-015-0073-8. Epub 2015 Dec 18.

PMID:
26684317
20.

Decreased kidney function and crystal deposition in the tubules after kidney transplant.

Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, Ceballos-Picot I, Bollée G, Daudon M.

Am J Kidney Dis. 2010 Sep;56(3):585-90. doi: 10.1053/j.ajkd.2009.12.028. Epub 2010 Mar 19.

PMID:
20303634

Supplemental Content

Support Center