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Items: 1 to 50 of 158

1.

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA.

Nature. 2019 Jun 19. doi: 10.1038/s41586-019-1312-2. [Epub ahead of print]

PMID:
31217582
2.

Long-term outcome in inherited nephrogenic diabetes insipidus.

Sharma S, Ashton E, Iancu D, Arthus MF, Hayes W, Van't Hoff W, Kleta R, Bichet DG, Bockenhauer D.

Clin Kidney J. 2018 Apr 13;12(2):180-187. doi: 10.1093/ckj/sfy027. eCollection 2019 Apr.

3.

Treatment and long-term outcome in primary distal renal tubular acidosis.

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-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı 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.

Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.

PMID:
30773598
4.

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Dourado MR, Dos Santos CRR, Dumitriu S, Iancu D, Albanyan S, Kleta R, Coletta RD, Marques Mesquita AT.

Eur J Med Genet. 2018 Oct 28. pii: S1769-7212(18)30249-0. doi: 10.1016/j.ejmg.2018.10.013. [Epub ahead of print]

PMID:
30394349
5.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

6.

MUC1 Makes Me Miserable.

Gale DP, Kleta R.

J Am Soc Nephrol. 2018 Sep;29(9):2257-2258. doi: 10.1681/ASN.2018070742. Epub 2018 Aug 17. No abstract available.

PMID:
30120109
7.

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, Kleta R, Van't Hoff W, Bockenhauer D.

Clin Kidney J. 2018 Jun;11(3):302-309. doi: 10.1093/ckj/sfx118. Epub 2017 Nov 10.

8.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
9.

Zebrafish as a model for kidney function and disease.

Outtandy P, Russell C, Kleta R, Bockenhauer D.

Pediatr Nephrol. 2019 May;34(5):751-762. doi: 10.1007/s00467-018-3921-7. Epub 2018 Mar 3. Review.

10.

OVAS: an open-source variant analysis suite with inheritance modelling.

Mozere M, Tekman M, Kari J, Bockenhauer D, Kleta R, Stanescu H.

BMC Bioinformatics. 2018 Feb 8;19(1):46. doi: 10.1186/s12859-018-2030-8.

11.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
12.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Enerbäck 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.

J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14.

13.

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2018 Mar;29(3):727-739. doi: 10.1681/ASN.2017060600. Epub 2017 Dec 13.

14.

Genetics of membranous nephropathy.

Gupta S, Köttgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R.

Nephrol Dial Transplant. 2018 Sep 1;33(9):1493-1502. doi: 10.1093/ndt/gfx296.

PMID:
29126273
15.

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

Tekman M, Medlar A, Mozere M, Kleta R, Stanescu H.

Bioinformatics. 2017 Dec 15;33(24):3871-3877. doi: 10.1093/bioinformatics/btx510.

PMID:
28961780
16.

Fainting Fanconi syndrome clarified by proxy: a case report.

Walsh SB, Unwin R, Kleta R, Van't Hoff W, Bass P, Hussain K, Ellard S, Bockenhauer D.

BMC Nephrol. 2017 Jul 11;18(1):230. doi: 10.1186/s12882-017-0649-8.

17.

Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London.

Gupta S, Connolly J, Pepper RJ, Walsh SB, Yaqoob MM, Kleta R, Ashman N.

BMC Nephrol. 2017 Jun 21;18(1):201. doi: 10.1186/s12882-017-0615-5.

18.

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

Issler N, Dufek S, Kleta R, Bockenhauer D, Smeulders N, Van't Hoff W.

BMC Nephrol. 2017 Apr 18;18(1):136. doi: 10.1186/s12882-017-0505-x.

19.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F.

J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.

20.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

21.

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, Hardy J, Viitanen M, Myllykangas L, Guerreiro R.

Brain. 2017 May 1;140(5):e29. doi: 10.1093/brain/awx062. No abstract available.

22.

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.

Pediatr Nephrol. 2017 Jun;32(6):1095. doi: 10.1007/s00467-017-3631-6. No abstract available.

PMID:
28258487
23.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

24.

Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.

Pediatr Nephrol. 2017 Jun;32(6):987-996. doi: 10.1007/s00467-016-3573-4. Epub 2017 Feb 10. Erratum in: Pediatr Nephrol. 2017 Jun;32(6):1095.

PMID:
28188436
25.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Le Quesne Stabej P, James C, Ocaka L, Tekman M, Grunewald S, Clement E, Stanescu HC, Kleta R, Morrogh D, Calder A, Williams HJ, Bitner-Glindzicz M.

Orphanet J Rare Dis. 2017 Feb 7;12(1):24. doi: 10.1186/s13023-017-0582-8.

26.

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

Pêgo SPB, Coletta RD, Dumitriu S, Iancu D, Albanyan S, Kleta R, Auricchio MT, Santos LA, Rocha B, Martelli-Júnior H.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Feb;123(2):229-234.e2. doi: 10.1016/j.oooo.2016.09.226. Epub 2016 Oct 13.

PMID:
28086997
27.

Of dogs and men.

Bockenhauer D, Kleta R.

Eur J Hum Genet. 2017 Feb;25(2):161. doi: 10.1038/ejhg.2016.161. No abstract available.

28.

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D, Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML, Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y, Chopra AK.

Brain. 2017 Feb;140(2):370-386. doi: 10.1093/brain/aww295. Epub 2016 Dec 21.

29.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA.

J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.

30.

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant.

Dufek S, Booth C, Carroll A, Van't Hoff W, Kleta R, Bockenhauer D.

Acta Paediatr. 2017 Mar;106(3):513-515. doi: 10.1111/apa.13697. Epub 2017 Jan 4. No abstract available.

PMID:
27935121
31.

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Abdelhadi O, Iancu D, Tekman M, Stanescu H, Bockenhauer D, Kleta R.

Mol Genet Genomic Med. 2016 Jun 7;4(5):521-6. doi: 10.1002/mgg3.227. eCollection 2016 Sep.

32.

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

Oliveira B, Kleta R, Bockenhauer D, Walsh SB.

Am J Physiol Renal Physiol. 2016 Dec 1;311(6):F1243-F1252. doi: 10.1152/ajprenal.00211.2016. Epub 2016 Sep 7. Review.

33.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K, Madkaikar M, Gilmour KC, Nicholas AK, Woods CG, Kleta R, Beales PL, Qasim W, Gaspar HB.

J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15.

PMID:
27522155
34.

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

Plumb LA, Van't Hoff W, Kleta R, Reid C, Ashton E, Samuels M, Bockenhauer D.

Lancet. 2016 Aug 6;388(10044):631-2. doi: 10.1016/S0140-6736(16)00087-8. No abstract available. Erratum in: Lancet. 2016 Aug 27;388(10047):870.

PMID:
27511787
35.

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.

Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D.

Rare Dis. 2016 Jun 1;4(1):e1195043. doi: 10.1080/21675511.2016.1195043. eCollection 2016. Review.

36.

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S.

Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0.

37.

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.

Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P; GCKD Investigators, Eckardt KU, Kronenberg F, Kleta R, Köttgen A.

Nephrol Dial Transplant. 2017 Feb 1;32(2):325-332. doi: 10.1093/ndt/gfw001. Epub 2016 Feb 4.

38.

Genetic causes of hypomagnesemia, a clinical overview.

Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D.

Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27. Review.

39.

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Assmann N, Dettmer K, Simbuerger JMB, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J.

Cell Rep. 2016 May 17;15(7):1423-1429. doi: 10.1016/j.celrep.2016.04.037. Epub 2016 May 5.

40.

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, Tekman M, Stanescu HC, Kleta R, Lane T, Hawkins PN, Lachmann HJ.

Rheumatology (Oxford). 2017 Feb;56(2):209-213. doi: 10.1093/rheumatology/kew058. Epub 2016 May 5.

PMID:
27150194
41.

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants.

Marx-Berger D, Milford DV, Bandhakavi M, Van't Hoff W, Kleta R, Dattani M, Bockenhauer D.

Acta Paediatr. 2016 Jul;105(7):e334-7. doi: 10.1111/apa.13415. Epub 2016 Apr 14.

PMID:
27028950
42.

The use of whole-exome sequencing to disentangle complex phenotypes.

Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R; GOSgene, Rosser E, Bacchelli C, Beales P.

Eur J Hum Genet. 2016 Feb;24(2):298-301. doi: 10.1038/ejhg.2015.121. Epub 2015 Jun 10.

43.

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene.

Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10.

44.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.

J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.

45.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.

46.

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

Ip W, Gaspar HB, Kleta R, Chanudet E, Bacchelli C, Pitts A, Nademi Z, Davies EG, Slatter MA, Amrolia P, Rao K, Veys P, Gennery AR, Qasim W.

J Clin Immunol. 2015 Feb;35(2):147-57. doi: 10.1007/s10875-015-0135-7. Epub 2015 Feb 8.

PMID:
25663137
47.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

48.

Renal Fanconi syndrome: taking a proximal look at the nephron.

Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D.

Nephrol Dial Transplant. 2015 Sep;30(9):1456-60. doi: 10.1093/ndt/gfu377. Epub 2014 Dec 9. Review.

PMID:
25492894
49.

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.

Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O''Rahilly S, Gorden P, Semple RK, Bockenhauer D.

Nephron Physiol. 2014;128(3-4):55-61. doi: 10.1159/000366225. Epub 2014 Oct 24.

50.

The case | Renal tubular acidosis and eye findings.

Kari JA, El Desoky SM, Singh AK, Gari MA, Kleta R, Bockenhauer D.

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

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