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Similar articles for PubMed (Select 16597637)

1.

Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.

Knight J, Holmes RP, Milliner DS, Monico CG, Cramer SD.

Nephrol Dial Transplant. 2006 Aug;21(8):2292-5. Epub 2006 Apr 5.

2.

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.

3.

Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2.

Giafi CF, Rumsby G.

Ann Clin Biochem. 1998 Jan;35 ( Pt 1):104-9. Erratum in: Ann Clin Biochem 1998 Sep;35(Pt 5):688.

PMID:
9463747
4.

Primary hyperoxaluria type 2: enzymology.

Giafi CF, Rumsby G.

J Nephrol. 1998 Mar-Apr;11 Suppl 1:29-31.

PMID:
9604806
5.

Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.

Levin-Iaina N, Dinour D, Romero L, Ron R, Brady RL, Cramer SD, Holtzman EJ.

J Urol. 2009 May;181(5):2146-51. doi: 10.1016/j.juro.2009.01.045. Epub 2009 Mar 17.

PMID:
19296982
6.

Genetic basis of primary hyperoxaluria type II.

Webster KE, Cramer SD.

Mol Urol. 2000 Winter;4(4):355-64.

PMID:
11156703
7.

Primary hyperoxaluria type 2 in children.

Johnson SA, Rumsby G, Cregeen D, Hulton SA.

Pediatr Nephrol. 2002 Aug;17(8):597-601. Epub 2002 Jun 6.

PMID:
12185464
8.

Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?

Rumsby G.

Nephrol Dial Transplant. 2006 Aug;21(8):2063-4. Epub 2006 Jul 4. No abstract available.

9.
10.

Hydroxyproline metabolism in mouse models of primary hyperoxaluria.

Knight J, Holmes RP, Cramer SD, Takayama T, Salido E.

Am J Physiol Renal Physiol. 2012 Mar 15;302(6):F688-93. doi: 10.1152/ajprenal.00473.2011. Epub 2011 Dec 21.

11.

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Rumsby G, Williams E, Coulter-Mackie M.

Kidney Int. 2004 Sep;66(3):959-63.

PMID:
15327387
12.

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
13.

Primary Hyperoxaluria Type 2.

Rumsby G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Dec 02 [updated 2011 May 05].

14.

Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.

Monico CG, Weinstein A, Jiang Z, Rohlinger AL, Cogal AG, Bjornson BB, Olson JB, Bergstralh EJ, Milliner DS, Aronson PS.

Am J Kidney Dis. 2008 Dec;52(6):1096-103. doi: 10.1053/j.ajkd.2008.07.041. Epub 2008 Oct 31.

15.
16.

Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.

Lam CW, Yuen YP, Lai CK, Tong SF, Lau LK, Tong KL, Chan YW.

Am J Kidney Dis. 2001 Dec;38(6):1307-10.

PMID:
11728965
17.

Primary hyperoxaluria type 2.

Mansell MA.

Nephrol Dial Transplant. 1995;10 Suppl 8:58-60.

PMID:
8592629
18.

Primary hyperoxaluria type 2.

Kemper MJ, Conrad S, Müller-Wiefel DE.

Eur J Pediatr. 1997 Jul;156(7):509-12. Review.

PMID:
9243228
19.
20.

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.

Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS.

Kidney Int. 2002 Aug;62(2):392-400.

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