The European Rare Kidney Disease Reference Network


Journal Watch

Metabolic and stone disorders

Glomerular Hyperfiltration: An Early Marker of Nephropathy in Fabry Disease.
Author(s): Riccio E, Sabbatini M, Bruzzese D, Annicchiarico Petruzzelli L, Pellegrino A, Spinelli L, Esposito R, Imbriaco M, Feriozzi S, Pisani A
Source: Nephron 2018 Nov 22;:1-8
Publication date: 2018-11-22
Long-term renal outcomes of APRT deficiency presenting in childhood.
Author(s): Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO
Source: Pediatr Nephrol 2018 Nov 15;
Publication date: 2018-11-15
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
Author(s): Brasell EJ, Chu L, El Kares R, Seo JH, Loesch R, Iglesias DM, Goodyer P
Source: Pediatr Nephrol 2018 Nov 9;
Publication date: 2018-11-9
α-galactosidase A deficiency promotes von Willebrand factor secretion in models of Fabry disease.
Author(s): Kang JJ, Kaissarian NM, Desch KC, Kelly RJ, Shu L, Bodary PF, Shayman JA
Source: Kidney Int 2018 Nov 20;
Publication date: 2018-11-20
Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old).
Author(s): Kompani F, Valavi E, Amuri P, Mohtasham N
Source: J Ren Nutr 2018 Oct 12;
Publication date: 2018-10-12
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