Primäre Hyperoxalurie

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Monico CG, Rossetti S, Belostotsky R et al (2011) Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol 6:2289–2295

Beck BB, Baasner A, Buescher A et al (2013) Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet 21:162–172

Cochat P, Rumsby G (2013) Primary hyperoxaluria. N Engl J Med 369:649–658

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Woerden CS, Groothoff JW, Wanders RJ van et al (2003) Primary hyperoxaluria type 1 in the Netherlands: prevalence and outcome. Nephrol Dial Transplant 18:273–279

Lieske JC, Monico CG, Holmes WS et al (2005) International registry for primary hyperoxaluria. Am J Nephrol 25:290–296

Danpure CJ, Jennings PR, Watts RW (1987) Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. Lancet 1:289–291

Hoppe B (2012) An update on primary hyperoxaluria. Nat Rev Nephrol 8:467–475

Cramer SD, Ferree PM, Lin K et al (1999) The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 8:2063–2069

Kemper MJ, Conrad S, Müller-Wiefel DE (1997) Primary hyperoxaluria type 2. Eur J Pediatr 156:509–512

Hoyer-Kuhn H, Kohbrok S, Volland R et al (2014) Vitamin b6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. Clin J Am Soc Nephrol 9:468–477

Cochat P, Hulton SA, Acquaviva C et al (2012) Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27:1729–1736

Milliner DS (2005) The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 25:154–160

Allison MJ, Dawson KA, Mayberry WR, Foss JG (1985) Oxalobacter formigenes gen. nov., sp. nov.: oxalate-degrading anaerobes that inhabit the gastrointestinal tract. Arch Microbiol 141:1–7

Hatch M, Cornelius J, Allison M et al (2006) Oxalobacter sp. reduces urinary oxalate excretion by promoting enteric oxalate secretion. Kidney Int 69:691–698

Hoppe B, Beck B, Gatter N et al (2006) Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int 70:1305–1311

Hoppe B, Graf D, Offner G et al (1996) Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol 10:488–492

Illies F, Bonzel KE, Wingen AM et al (2006) Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. Kidney Int 70:1642–1648

Brinkert F, Ganschow R, Helmke K et al (2009) Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth. Transplantation 87:1415–1421

Jamieson NV (2005) A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984–2004. Am J Nephrol 25:282–289

Beck BB, Hoyer-Kuhn H, Göbel H et al (2012) Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions. Expert Opin Investig Drugs 22:117–129