Journal Watch

Metabolic and stone disorders

Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Author(s): Varela P, Mastroianni Kirsztajn G, Ferrer H, Aranda C, Wallbach K, Ferreira da Mata G, Moura LA, Moreira SR, Mendes C, Curiati MA, Martins AM, Bosco Pesquero J
Source: Nephron 2019 Oct 30;:1-9
Publication date: 2019-10-30
Early Biomarkers of Fabry Nephropathy: A Review of the Literature.
Author(s): Riccio E, Sabbatini M, Capuano I, Pisani A
Source: Nephron 2019 Oct 15;:1-8
Publication date: 2019-10-15
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
Author(s): Janssens V, Gaide Chevronnay HP, Marie S, Vincent MF, Van Der Smissen P, Nevo N, Vainio S, Nielsen R, Christensen EI, Jouret F, Antignac C, Pierreux CE, Courtoy PJ
Source: J Am Soc Nephrol 2019 Sep 23;
Publication date: 2019-09-23
Nationwide Hypophosphatemic Rickets Cohort Study
Author(s): Şıklar Z, Turan S, Bereket A, Baş F, Güran T, Akberzade A, Abacı A, Demir K, Böber E, Özbek MN, Kara C, Poyrazoğlu Ş, Aydın M, Kardelen A, Tarım Ö, Eren E, Hatipoğlu N, Büyükinan M, Akyürek N, Çetinkaya S, Bayramoğlu E, Selver Eklioğlu B, Uçaktürk A, Abalı S, Gökşen D, Kor Y, Ünal E, Esen İ, Yıldırım R, Akın O, Çayır A, Dilek E, Kırel B, Anık A, Çatlı G, Berberoğlu M
Source: J Clin Res Pediatr Endocrinol 2019 Sep 13;
Publication date: 2019-09-13
Stiripentol for the treatment of primary hyperoxaluria and calcium oxalate nephropathy.
Author(s): Wyatt CM, Drüeke TB
Source: Kidney Int 2019 Aug 23;
Publication date: 2019-08-23
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