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Items: 1 to 50 of 159

1.

Functional Assessment of Variants Associated with Wolfram Syndrome.

Riachi M, Yilmaz S, Kurnaz E, Aycan Z, Çetinkaya S, Tranebjærg L, Rendtorff ND, Bitner-Glindzicz M, Bockenhauer D, Hussain K.

Hum Mol Genet. 2019 Oct 10. pii: ddz212. doi: 10.1093/hmg/ddz212. [Epub ahead of print]

PMID:
31600780
2.

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.

Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D.

Kidney Int Rep. 2019 May 29;4(9):1304-1311. doi: 10.1016/j.ekir.2019.05.019. eCollection 2019 Sep.

3.

ADPedKD: A Global Online Platform on the Management of Children With ADPKD.

De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium.

Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep.

4.

Acute kidney injury in an infant with severe combined immunodeficiency: Answers.

Malakasioti G, Alders N, Lucchini G, Cheng IL, Bockenhauer D.

Pediatr Nephrol. 2019 Jul 16. doi: 10.1007/s00467-019-04303-w. [Epub ahead of print] No abstract available.

PMID:
31313001
5.

Acute kidney injury in an infant with severe combined immunodeficiency: Questions.

Malakasioti G, Alders N, Lucchini G, Cheng IL, Bockenhauer D.

Pediatr Nephrol. 2019 Jul 16. doi: 10.1007/s00467-019-04302-x. [Epub ahead of print] No abstract available.

PMID:
31313000
6.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1.

PMID:
31263063
7.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.

Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F.

Nat Rev Nephrol. 2019 May 22. doi: 10.1038/s41581-019-0155-2. [Epub ahead of print] Review.

PMID:
31118499
8.

Swimming with the fishes: delineating tubular transport pathways for magnesium.

Downie ML, Bockenhauer D.

Pflugers Arch. 2019 Jun;471(6):817-818. doi: 10.1007/s00424-019-02286-z. Epub 2019 May 20. No abstract available.

PMID:
31111224
9.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A.

Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Review.

PMID:
31068690
10.

Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.

Schaefer F, Mekahli D, Emma F, Gilbert RD, Bockenhauer D, Cadnapaphornchai MA, Shi L, Dandurand A, Sikes K, Shoaf SE.

Eur J Pediatr. 2019 Jul;178(7):1013-1021. doi: 10.1007/s00431-019-03384-x. Epub 2019 May 3.

11.

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.

12.

Plasma electrolyte imbalance in pediatric kidney transplant recipients.

Hayes W, Longley C, Scanlon N, Bryant W, Stojanovic J, Kessaris N, Van't Hoff W, Bockenhauer D, Marks SD.

Pediatr Transplant. 2019 Jun;23(4):e13411. doi: 10.1111/petr.13411. Epub 2019 Apr 11.

PMID:
30973673
13.

GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis.

Bichet DG, Granier S, Bockenhauer D.

J Am Soc Nephrol. 2019 May;30(5):722-725. doi: 10.1681/ASN.2019020143. Epub 2019 Apr 8. No abstract available.

PMID:
30962326
14.

Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study.

Hanson CS, Gutman T, Craig JC, Bernays S, Raman G, Zhang Y, James LJ, Ralph AF, Ju A, Manera KE, Teixeira-Pinto A, Viecelli AK, Alexander SI, Blydt-Hansen TD, Dionne J, McTaggart S, Michael M, Walker A, Carter S, Wenderfer SE, Winkelmayer WC, Bockenhauer D, Dart A, Eddy AA, Furth SL, Gipson DS, Goldstein SL, Groothoff J, Samuel S, Sinha A, Webb NJA, Yap HK, Zappitelli M, Currier H, Tong A.

Am J Kidney Dis. 2019 Jul;74(1):82-94. doi: 10.1053/j.ajkd.2018.12.040. Epub 2019 Mar 15.

PMID:
30885704
15.

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
16.

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.

17.

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250.

18.

Management of children with congenital nephrotic syndrome: challenging treatment paradigms.

Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G, Aufricht C, Bacchetta J, Bakkaloglu SA, Bayazit A, Cicek RY, Dursun I, Duzova A, Ekim M, Iancu D, Jankauskiene A, Klaus G, Paglialonga F, Pasini A, Printza N, Said Conti V, do Sameiro Faria M, Schmitt CP, Stefanidis CJ, Verrina E, Vidal E, Vondrak K, Webb H, Zampetoglou A, Bockenhauer D, Edefonti A, Shroff R.

Nephrol Dial Transplant. 2018 Jun 21. doi: 10.1093/ndt/gfy165. [Epub ahead of print]

PMID:
30215773
19.

Child and Parental Perspectives on Communication and Decision Making in Pediatric CKD: A Focus Group Study.

Gutman T, Hanson CS, Bernays S, Craig JC, Sinha A, Dart A, Eddy AA, Gipson DS, Bockenhauer D, Yap HK, Groothoff J, Zappitelli M, Webb NJA, Alexander SI, Goldstein SL, Furth S, Samuel S, Blydt-Hansen T, Dionne J, Michael M, Wenderfer SE, Winkelmayer WC, Currier H, McTaggart S, Walker A, Ralph AF, Ju A, James LJ, Carter S, Tong A.

Am J Kidney Dis. 2018 Oct;72(4):547-559. doi: 10.1053/j.ajkd.2018.05.005. Epub 2018 Jul 3.

20.

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.

21.

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

Saito H, Noda H, Gatault P, Bockenhauer D, Loke KY, Hiort O, Silve C, Sharwood E, Martin RM, Dillon MJ, Gillis D, Harris M, Rao SD, Pauli RM, Gardella TJ, Jüppner H.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2660-2669. doi: 10.1210/jc.2018-00332.

22.

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.

23.

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.

Stiles CE, Thuraisingham R, Bockenhauer D, Platts L, Kumar AV, Korbonits M.

Endocrinol Diabetes Metab Case Rep. 2018 Mar 21;2018. pii: EDM170120. doi: 10.1530/EDM-17-0120. eCollection 2018.

24.

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.

25.

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.

26.

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
27.

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.

28.

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. Review.

29.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

30.

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. Review.

31.

Potential and pitfalls in the genetic diagnosis of kidney diseases.

Kesselheim A, Ashton E, Bockenhauer D.

Clin Kidney J. 2017 Oct;10(5):581-585. doi: 10.1093/ckj/sfx075. Epub 2017 Jul 18.

32.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants.

Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Erratum in: Kidney Int. 2017 Dec;92(6):1558.

33.

The orthopaedic management of lower limb deformity in hypophosphataemic rickets.

Horn A, Wright J, Bockenhauer D, Van't Hoff W, Eastwood DM.

J Child Orthop. 2017 Aug 1;11(4):298-305. doi: 10.1302/1863-2548.11.170003.

34.

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.

35.

Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.

Chong LSH, Sautenet B, Tong A, Hanson CS, Samuel S, Zappitelli M, Dart A, Furth S, Eddy AA, Groothoff J, Webb NJA, Yap HK, Bockenhauer D, Sinha A, Alexander SI, Goldstein SL, Gipson DS, Raman G, Craig JC.

J Pediatr. 2017 Jul;186:110-117.e11. doi: 10.1016/j.jpeds.2017.03.034. Epub 2017 Apr 24.

PMID:
28449820
36.

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.

37.

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.

38.

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
39.

Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics?

Bockenhauer D.

Pediatr Nephrol. 2017 May;32(5):721-723. doi: 10.1007/s00467-017-3578-7. Epub 2017 Feb 13.

PMID:
28194573
40.

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
41.

Erratum to: Hypomagnesemia and increased risk of new-onset diabetes mellitus after transplantation in pediatric renal transplant recipients.

Hayes W, Boyle S, Carroll A, Bockenhauer D, Marks SD.

Pediatr Nephrol. 2017 May;32(5):903. doi: 10.1007/s00467-017-3609-4. No abstract available.

PMID:
28185013
42.

Nephrogenic diabetes insipidus.

Bockenhauer D, Bichet DG.

Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Review.

PMID:
28134709
43.

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.

44.

Hypomagnesemia and increased risk of new-onset diabetes mellitus after transplantation in pediatric renal transplant recipients.

Hayes W, Boyle S, Carroll A, Bockenhauer D, Marks SD.

Pediatr Nephrol. 2017 May;32(5):879-884. doi: 10.1007/s00467-016-3571-6. Epub 2016 Dec 30. Erratum in: Pediatr Nephrol. 2017 May;32(5):903.

45.

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R.

Kidney Int. 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046.

46.

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
47.

Facial swelling in a child on chronic hemodialysis: Answers.

Sawan ZA, El-Desoky SM, Shalaby MA, Bockenhauer D, Kari JA.

Pediatr Nephrol. 2017 Aug;32(8):1351-1353. doi: 10.1007/s00467-016-3525-z. Epub 2016 Nov 17. No abstract available.

PMID:
27858195
48.

Facial swelling in a child on chronic hemodialysis: Questions.

Sawan ZA, El-Desoky SM, Shalaby MA, Bockenhauer D, Kari JA.

Pediatr Nephrol. 2017 Aug;32(8):1349-1350. doi: 10.1007/s00467-016-3523-1. Epub 2016 Nov 17. No abstract available.

PMID:
27858194
49.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L.

Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26.

50.

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.

Zaniew M, Bökenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, Szczepanska M, Bürger J, La Manna A, Miklaszewska M, Rogowska-Kalisz A, Gellermann J, Zampetoglou A, Wasilewska A, Roszak M, Moczko J, Krzemien A, Runowski D, Siten G, Zaluska-Lesniewska I, Fonduli P, Zurrida F, Paglialonga F, Gucev Z, Paripovic D, Rus R, Said-Conti V, Sartz L, Chung WY, Park SJ, Lee JW, Park YH, Ahn YH, Sikora P, Stefanidis CJ, Tasic V, Konrad M, Anglani F, Addis M, Cheong HI, Ludwig M, Bockenhauer D.

Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350.

PMID:
27708066

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