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Items: 15

1.

Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease.

Nematollahi P, Mohammadizadeh F.

Case Rep Hematol. 2015;2015:402947. doi: 10.1155/2015/402947. Epub 2015 Nov 8.

2.

Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.

Bollée G, Cochat P, Daudon M.

Can J Kidney Health Dis. 2015 Sep 15;2:31. doi: 10.1186/s40697-015-0069-2. eCollection 2015. Review.

3.

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium.

J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2.

PMID:
25644115
4.

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.

Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.

5.

Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria.

Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC.

Kidney Int. 2015 Mar;87(3):623-31. doi: 10.1038/ki.2014.298. Epub 2014 Sep 17.

6.

Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant.

Lorenz EC, Lieske JC, Seide BM, Meek AM, Olson JB, Bergstralh EJ, Milliner DS.

Am J Transplant. 2014 Jun;14(6):1433-8. doi: 10.1111/ajt.12706. Epub 2014 May 2.

7.

Oxalate quantification in hemodialysate to assess dialysis adequacy for primary hyperoxaluria.

Tang X, Voskoboev NV, Wannarka SL, Olson JB, Milliner DS, Lieske JC.

Am J Nephrol. 2014;39(5):376-82. doi: 10.1159/000360624. Epub 2014 Apr 26.

8.

Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.

Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B.

Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77. doi: 10.2215/CJN.06820613. Epub 2014 Jan 2.

9.

Kidney stones in primary hyperoxaluria: new lessons learnt.

Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B.

PLoS One. 2013 Aug 5;8(8):e70617. doi: 10.1371/journal.pone.0070617. Print 2013.

10.

Hereditary causes of kidney stones and chronic kidney disease.

Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R.

Pediatr Nephrol. 2013 Oct;28(10):1923-42. doi: 10.1007/s00467-012-2329-z. Epub 2013 Jan 20. Review.

11.
12.

Endocrine manifestations related to inherited metabolic diseases in adults.

Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C.

Orphanet J Rare Dis. 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. Review.

13.

Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy.

Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P; European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry.

Clin J Am Soc Nephrol. 2012 Mar;7(3):458-65. doi: 10.2215/CJN.07430711. Epub 2012 Jan 5.

14.

Primary hyperoxaluria.

Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P.

Int J Nephrol. 2011;2011:864580. doi: 10.4061/2011/864580. Epub 2011 Jun 16.

15.

Transplantation outcomes in primary hyperoxaluria.

Bergstralh EJ, Monico CG, Lieske JC, Herges RM, Langman CB, Hoppe B, Milliner DS; IPHR Investigators.

Am J Transplant. 2010 Nov;10(11):2493-501. doi: 10.1111/j.1600-6143.2010.03271.x. Epub 2010 Sep 17.

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