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Items: 1 to 20 of 237

1.

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.

Danpure CJ, Rumsby G.

Expert Rev Mol Med. 2004 Jan 9;6(1):1-16. Review.

PMID:
14987413
2.

Molecular aetiology of primary hyperoxaluria type 1.

Danpure CJ.

Nephron Exp Nephrol. 2004;98(2):e39-44. Review.

PMID:
15499210
3.

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.

Zhang X, Roe SM, Hou Y, Bartlam M, Rao Z, Pearl LH, Danpure CJ.

J Mol Biol. 2003 Aug 15;331(3):643-52.

PMID:
12899834
4.

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, et al.

Am J Hum Genet. 1993 Aug;53(2):417-32.

6.

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.

Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J.

J Inherit Metab Dis. 1994;17(4):487-99. Review.

PMID:
7967498
7.

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.

Danpure CJ.

Am J Nephrol. 2005 May-Jun;25(3):303-10. Epub 2005 Jun 15. Review.

8.
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11.

[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].

van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR.

Ned Tijdschr Geneeskd. 2006 Jul 29;150(30):1669-72. Review. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2006 Nov 4;150(44):2460.

PMID:
16922352
12.

Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.

Behnam JT, Williams EL, Brink S, Rumsby G, Danpure CJ.

Biochem J. 2006 Mar 1;394(Pt 2):409-16.

13.

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M.

J Am Soc Nephrol. 2001 Oct;12(10):2072-9.

14.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PMID:
19479957
15.

Identification of new mutations in primary hyperoxaluria type 1 (PH1).

von Schnakenburg C, Rumsby G.

J Nephrol. 1998 Mar-Apr;11 Suppl 1:15-7.

PMID:
9604803
16.

Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.

Danpure CJ, Lumb MJ, Birdsey GM, Zhang X.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):70-5. Review.

PMID:
12686111
17.
18.

Molecular insights into primary hyperoxaluria type 1 pathogenesis.

Cellini B, Oppici E, Paiardini A, Montioli R.

Front Biosci (Landmark Ed). 2012 Jan 1;17:621-34. Review.

PMID:
22201765
19.

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP.

Hum Mol Genet. 1999 Oct;8(11):2063-9. Erratum in: Hum Mol Genet 1999 Dec;8(13):2574.

20.

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB, Rumsby G.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. Review.

PMID:
15464418
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