Primary hyperoxaluria type 1: practical and ethical issues
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00467-013-2444-5.pdf
Reference25 articles.
1. Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P (2011) Primary hyperoxaluria. Int J Nephrol. doi: 10.4061/2011/864580
2. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff JW, Harambat J, Hoppe B, Jamieson N, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS, on behalf of OxalEurope (2012) Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27:1729–1736
3. van der Hoeven SM, van Woerden CS, Groothoff JW (2012) Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant 27:3855–3862
4. van Woerden CS, Groothoff JW, Wijburg SA, Waterham HR, Wanders RJ, Janssen MJ, Duran M (2007) Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis. Clin Chem 53:1553–1555
5. Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott AM, Rolland MO, Cochat P (2010) Genotype-phenotype correlations in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with better outcome. Kidney Int 77:443–449
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