Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

@article{Vyletal2008AbnormalEA,
  title={Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy},
  author={Petr Vylet’al and Helena Hůlkov{\'a} and Martina Živn{\'a} and Linda Bern{\'a} and Petr Nov{\'a}k and Milan Elleder and Stanislav Kmoch},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={508-517}
}
Uromodulin (UMOD) malfunction has been found in a range of autosomal dominant tubulointerstitial nephropathies associated with hyperuricaemia, gouty arthritis, medullary cysts and renal failure—labelled as familial juvenile hyperuricaemic nephropathy, medullary cystic disease type 2 and glomerulocystic kidney disease. To gain knowledge of the spectrum of… CONTINUE READING