The case | Renal tubular acidosis and eye findings

Kidney Int. 2014 Jul;86(1):217-8. doi: 10.1038/ki.2013.320.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / diagnosis*
  • Acidosis, Renal Tubular / genetics
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / genetics
  • Calcinosis / diagnosis
  • Calcinosis / genetics
  • Child, Preschool
  • Consanguinity
  • Corneal Opacity / diagnosis*
  • Corneal Opacity / genetics
  • Corneal Opacity / surgery
  • Female
  • Homozygote
  • Humans
  • Recurrence
  • Sequence Deletion
  • Sodium-Bicarbonate Symporters / genetics
  • Tomography, X-Ray Computed

Substances

  • SLC4A4 protein, human
  • Sodium-Bicarbonate Symporters

Supplementary concepts

  • Idiopathic basal ganglia calcification, childhood onset