- Tytuł:
- A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
- Autorzy:
- Źródło:
- Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2007 Aug; Vol. 22 (8), pp. 1219-23. Date of Electronic Publication: 2007 Mar 31.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Bartter Syndrome/*genetics
Potassium Channels, Inwardly Rectifying/*genetics
Pseudohypoaldosteronism/*diagnosis
Adolescent ; Bartter Syndrome/blood ; Bartter Syndrome/classification ; Bartter Syndrome/complications ; Bartter Syndrome/metabolism ; Follow-Up Studies ; Homozygote ; Humans ; Hypercalciuria ; Hyperkalemia ; Hyponatremia ; Length of Stay ; Male ; Pedigree ; Pseudohypoaldosteronism/complications
Czasopismo naukowe