Phenotypic variability in distal acidification defects associated with WDR72 mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-020-04747-5.pdf
Reference29 articles.
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3. Wagner CA, Finberg KE, Breton S, Marshansky V, Brown D, Geibel JP (2004) Renal vacuolar H+-ATPase. Physiol Rev 84:1263–1314
4. Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Pena H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yuksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, Konig J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wuhl E, Agbas A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pinarbasi AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D, European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant 34:981–991
5. Enerback S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA (2018) Acidosis and deafness in patients with recessive mutations in FOXI1. J Am Soc Nephrol 29:1041–1048
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