The European Rare Kidney Disease Reference Network


Journal Watch

Metabolic and stone disorders

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
Author(s): BinEssa HA, Zou M, Al-Enezi AF, Alomrani B, Al-Faham MSA, Al-Rijjal RA, Meyer BF, Shi Y
Source: Bone 2019 Aug;125:186-193
Publication date: 2019-08
Management of bone disease in cystinosis: Statement from an international conference.
Author(s): Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Pozza SB, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D
Source: J Inherit Metab Dis 2019 Jun 8;
Publication date: 2019-06-8
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Author(s): Nakagawa N, Sawada J, Sakamoto N, Takeuchi T, Takahashi F, Maruyama JI, Momosaki K, Nakamura K, Endo F, Hasebe N
Source: J Hum Genet 2019 Jun 19;
Publication date: 2019-06-19
Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Author(s): Cai R, Lin M, Chen Z, Lai Y, Huang X, Zhao G, Guo X, Xiong Z, Chen J, Chen H, Jiang Q, Liu S, Yang Y, Liang W, Zou M, Liu T, Chen W, Liu H, Peng J
Source: BMC Nephrol 2019 Jun 18;20(1):224
Publication date: 2019-06-18
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