Recently added publications
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
Predicting the protein composition of human urine in normal and pathological states: Quantitative description based on Dent1 disease (CLCN5 mutation).
Author(s): Edwards A, Christensen EI, Unwin RJ, Norden AGW
Source: J Physiol 2021 Jan;599(1):323-341
Publication date: 2021-01
Novel therapeutic approaches for the primary hyperoxalurias.
Author(s): Belostotsky R, Frishberg Y
Source: Pediatr Nephrol 2020 Nov 6;
Publication date: 2020-11-6
Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones.
Author(s): Jayachandran M, Yuzhakov SV, Kumar S, Larson NB, Enders FT, Milliner DS, Rule AD, Lieske JC
Source: Orphanet J Rare Dis 2020 Nov 11;15(1):319
Publication date: 2020-11-11
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.
Author(s): Bezdíčka M, Langer J, Háček J, Zieg J
Source: Front Pediatr 2020;8:583230
Publication date: 2020