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Results: 1 to 20 of 25

1.

Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B.

Clin Biochem. 2007 Jan;40(1-2):73-80. Epub 2006 Oct 19.

PMID:
17126311
[PubMed - indexed for MEDLINE]
2.

[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
[PubMed - indexed for MEDLINE]
4.

[Adenine phosphoribosyltransferase(APRT) deficiency].

Kamatani N.

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

PMID:
8976113
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

[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
[PubMed - indexed for MEDLINE]
7.

[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
[PubMed - indexed for MEDLINE]
8.

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

Safranow K.

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

PMID:
9608233
[PubMed - indexed for MEDLINE]
9.

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Taniguchi A.

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

PMID:
18409532
[PubMed - indexed for MEDLINE]
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.

PMID:
22700886
[PubMed - indexed for MEDLINE]
Free Article
11.

[Adenine phosphoribosyltransferase (APRT)].

Kamatani N.

Nihon Rinsho. 1996 Dec;54(12):3213-9. Review. Japanese.

PMID:
8976094
[PubMed - indexed for MEDLINE]
12.

2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.

Glicklich D, Gruber HE, Matas AJ, Tellis VA, Karwa G, Finley K, Salem C, Soberman R, Seegmiller JE.

Q J Med. 1988 Oct;68(258):785-93. Review.

PMID:
3077470
[PubMed - indexed for MEDLINE]
13.

[Genotype and genetic diagnosis of APRT deficiency].

Hakoda M, Kamatani N.

Nihon Rinsho. 1992 Dec;50(12):3110-5. Review. Japanese.

PMID:
1491461
[PubMed - indexed for MEDLINE]
14.

2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?

Simmonds HA.

Clin Nephrol. 1979 Nov;12(5):195-7. Review. No abstract available.

PMID:
389507
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

[Adenine phosphoribosyltransferase (APRT) deficiency].

Taniguchi A.

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

PMID:
9590102
[PubMed - indexed for MEDLINE]
17.

[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].

Kitami K, Kinoshita Y, Hosaka M.

Hinyokika Kiyo. 1990 Jan;36(1):73-6. Review. Japanese.

PMID:
2408267
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
20.

[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria].

Orts Costa JA, Zúñiga Cabrera A, Ferrando Monleón S.

Med Clin (Barc). 2002 Oct 19;119(13):508-15. Review. Spanish. No abstract available.

PMID:
12406401
[PubMed - indexed for MEDLINE]

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