ERKNet

The European Rare Kidney Disease Reference Network
  

Journal Watch

Tubulopathies

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Author(s): Thiele S, Werner R, Stubbe A, Hiort O, Hoeppner W
Source: Eur J Endocrinol 2020 Nov;183(5):497-504
Publication date: 2020-11
X-Linked Hypophosphatemia: A New Era in Management.
Author(s): Dahir K, Roberts MS, Krolczyk S, Simmons JH
Source: J Endocr Soc 2020 Dec 1;4(12):bvaa151
Publication date: 2020-12-1
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.
Author(s): Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L
Source: Front Genet 2020;11:585064
Publication date: 2020
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Author(s): Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R
Source: Am J Med Genet A 2020 Nov 30;
Publication date: 2020-11-30
Novel Fanconi Renotubular Syndromes Provide Insights In Proximal Tubule Pathophysiology.
Author(s): Lemaire M
Source: Am J Physiol Renal Physiol 2020 Dec 7;
Publication date: 2020-12-7
+ Show 39 more...

To register for the JWatch Subscription, you must accept cookies
European Reference Networks
ERKNet is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission.
For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/health/ern