Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 120

1.

[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
2.

[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.

3.

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
4.

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Taniguchi A.

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

PMID:
18409532
6.

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
7.

[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
8.

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.

9.

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.

10.

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.

11.

[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.

PMID:
9850838
12.

[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients].

Higashimoto H, Kawaguchi R, Hikiji K.

Rinsho Byori. 1992 Oct;40(10):1067-72. Japanese.

PMID:
1307610
13.

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

Shiba M, Shimizu K, Takatera H.

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

PMID:
14518391
14.
16.

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
17.

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
18.

[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.

[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].

Nakanishi S, Saito R, Mizuno K, Matsuoka T, Kita Y, Asai S, Taoka R, Soda T, Inoue K, Terai A.

Hinyokika Kiyo. 2011 Oct;57(10):551-4. Japanese.

20.

Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.

Usenius JP, Ruopuro ML, Usenius R.

Br J Urol. 1988 Dec;62(6):521-4.

PMID:
3219508
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk