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Items: 18

1.

A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.

Taniguchi A, Hakoda M, Yamanaka H, Terai C, Hikiji K, Kawaguchi R, Konishi N, Kashiwazaki S, Kamatani N.

Hum Genet. 1998 Feb;102(2):197-202.

PMID:
9521589
3.

[Adenine phosphoribosyltransferase(APRT) deficiency].

Kamatani N.

Nihon Rinsho. 1996 Dec;54(12):3321-7. Review. Japanese.

PMID:
8976113
4.

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Taniguchi A.

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

PMID:
18409532
5.

[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
6.

[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
7.

[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].

Bouzidi H, Lacour B, Daudon M.

Ann Biol Clin (Paris). 2007 Nov-Dec;65(6):585-92. Review. French.

PMID:
18039602
8.

[Two siblings with 2,8-dihydroxyadenine urolithiasis].

Kambayashi T, Nakanishi T, Suzuki K, Fujita K, Tajima A, Kawabe K.

Hinyokika Kiyo. 1994 Dec;40(12):1097-101. Review. Japanese.

PMID:
7863862
9.

[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].

Safranow K.

Postepy Hig Med Dosw. 1998;52(1):89-104. Review. Polish.

PMID:
9608233
10.

Germline and somatic mutation at the APRT locus of mice and man.

Tischfield JA, Engle SJ, Gupta PK, Bye S, Boyadjiev S, Shao C, O'Neill P, Albertini RJ, Stambrook PJ, Sahota AS.

Adv Exp Med Biol. 1994;370:661-4. Review. No abstract available.

PMID:
7660991
11.

Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.

Matsuyama W, Nakagawa M, Takashima H, Muranaga F, Sano Y, Osame M.

Intern Med. 2001 Dec;40(12):1254-8. Review.

12.

[2,8-Dihydroxyadenine lithiasis].

Yagisawa T, Toma H.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):467-9. Review. Japanese. No abstract available.

PMID:
9590103
13.

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.

14.

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
15.

[Adenine phosphoribosyltransferase (APRT) deficiency].

Taniguchi A.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):464-6. Review. Japanese. No abstract available.

PMID:
9590102
16.

[Adenine phosphoribosyltransferase (APRT)].

Taniguchi A.

Nihon Rinsho. 2003 Jan;61 Suppl 1:77-80. Review. Japanese. No abstract available.

PMID:
12629694
17.

[2,8 dihydroxyadenine(2,8 DHA) lithiasis. Report of 3 cases].

Wuhl O, Vila R, Barcelo P, Laguna P, Rousaud A.

Actas Urol Esp. 1994 Jan;18(1):43-6. Review. Spanish.

PMID:
8191945
18.

[APRT deficiency].

Hakoda M.

Ryoikibetsu Shokogun Shirizu. 1997;(17 Pt 2):235-8. Review. Japanese. No abstract available.

PMID:
9277905
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