The European Rare Kidney Disease Reference Network


Journal Watch

Metabolic and stone disorders

Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1.
Author(s): Atiskova Y, Dulz S, Schmäschke K, Oh J, Grabhorn E, Kemper MJ, Brinkert F
Source: Am J Transplant 2019 Jun 1;
Publication date: 2019-06-1
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.
Author(s): Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K
Source: Am J Kidney Dis 2019 May 15;
Publication date: 2019-05-15
6th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities.
Source: Nephron 2019 May 22;
Publication date: 2019-05-22
The gut flora modulates intestinal barrier integrity but not progression of chronic kidney disease in hyperoxaluria-related nephrocalcinosis.
Author(s): Konrad L, Andersen K, Kesper MS, Kumar SV, Mulay SR, Anders HJ
Source: Nephrol Dial Transplant 2019 May 12;
Publication date: 2019-05-12
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Author(s): Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Source: Nat Rev Nephrol 2019 May 8;
Publication date: 2019-05-8
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