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Detlef Böckenhauer

Department of Paediatric Nephrology

69H-index
481Paper Count
1.8WCitation Count
Published Papers 114
Publication Date
Chronic hyponatraemia with a reset osmostat: when abnormal is normal
err2026-06-30
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PREAI
errHannah Butaye; Lotte Hoskens; Detlef Bockenhauer
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Phenotypic spectrum of HNF4α-associated Fanconi renotubular syndrome
err2026-05-26
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errOAAI
errFrancesco Emma; Detlef Böckenhauer; Andrew J. Mallett; Rupesh Raina; Sidharth K. Sethi; Gerlineke Hawkins-van der Cingel; Martin Bald; Leyat Tal; Martin Pohl; Marie Courbebaisse; Marguerite Hureaux; Robert Kleta; Barbara Ruggiero; Marina Aksenova; Héctor Ríos; Greg Wilson; Kay Latta; Justine Bacchetta; Francesco Trepiccione; Martin Konrad
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Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction
err2026-02-11
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PREAI
errJ. Christopher Hennings; Keerthana S. Murthy; Nicolas Picard; Inês Cabrita; David Böhm; Antje K. Huebner; Maria E. Krause; Gregor J. Gentsch; Vandit Shah; Jennifer Baraka-Vidot; Mukhran Khundadze; Diana Schmerler; Michael Kiehntopf; Tobias Stauber; Detlef Böckenhauer; Thomas J. Jentsch; Sebastian Bachmann; Christian Franke; Bernhard Schermer; Dominique Eladari; Régine Chambrey; Christian A. Hübner
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Failure to thrive in children with tubulopathies
err2025-11-20
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PREAI
errGiulio Rivetti; Francesco Emma; Faidra Veligratli; Pierluigi Marzuillo; Detlef Böckenhauer
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Metabolic control affects growth in dRTA: findings from the ESPN-ERKNet dRTA sub-registry
err2025-10-01
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errOAAI
errGiaccari, Marta; Topologlu, Rezan; Heidet, Laurence; Fila, Marc; Atmis, Bahriye; Bertholet-Thomas, Aurelia; Hooman, Nakysa; Aksu, Bagdagul; Eid, Loai; Bockenhauer, Detlef; Emma, Francesco
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Fifty Shades of Risk
err2025-09-01
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PREAI
errSadeghi-Alavijeh, Omid; Chan, Melanie M. Y.; Stanescu, Horia; Gale, Daniel P.; Bockenhauer, Detlef
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Novel RRAGD variants in autosomal dominant kidney hypomagnesemia and therapeutic perspectives
err2025-07-29
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errAnastasia Adella; François Jouret; Leire Madariaga; Pieter A. Leermakers; Pedro Arango; Gema Ariceta; Bodo B. Beck; Anna Bjerre; Detlef Bockenhauer; Paula Coccia; Radhika Dhamija; Fernando de Frutos; Alejandro Garcia-Castano; Sara B. van Katwijk; Jesus Lucas; Thomas Möller; Dominik Müller; Filippo Pinto e Vairo; Melinda Raki; Jonathan Rips; Karl Peter Schlingmann; Hanka Venselaar; Matheus Vernet Machado Bressan Wilke; Tom Nijenhuis; Joost Hoenderop; Jeroen de Baaij
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Thirsty encounters of the third kind
err2025-01-31
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PREAI
errDaniel G. Bichet; Detlef Bockenhauer
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Patient, Parental, and Health Professional Perspectives on Growth in Children With CKD
err2025-01-01
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PREAI
errWu, JG; Guha, C; Hughes, A; Torrisi, LG; Craig, JC; Sinha, A; Dart, A; Eddy, AA; Bockenhauer, D; Yap, HK; Groothoff, J; Alexander, SI; Furth, SL; Samuel, S; Carter, SA; Walker, A; Kausman, J; Jaure, A
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International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
err2024-10-22
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errOAAI
errLevtchenko, Elena; Ariceta, Gema; Arguedas Flores, Olga; Bichet, Daniel G.; Bockenhauer, Detlef; Emma, Francesco; Hoorn, Ewout J.; Koster-Kamphuis, Linda; Nijenhuis, Tom; Trepiccione, Francesco; Vargas-Poussou, Rosa; Walsh, Stephen B.; Knoers, Nine V. A. M.
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Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing
err2024-08-27
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errOAAI
errSadeghi-Alavijeh, Omid; Chan, Melanie M. Y.; Doctor, Gabriel T.; Voinescu, Catalin D.; Stuckey, Alexander; Kousathanas, Athanasios; Ho, Alexander T.; Stanescu, Horia C.; Bockenhauer, Detlef; Sandford, Richard N.; Levine, Adam P.; Gale, Daniel P.
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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
err2024-08-01
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errOAAI
errBuffin-Meyer, Benedicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; Koenig, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Veronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Konya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C.; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Toenshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; Eerde, Albertien M. van; Schanstra, Joost P.; Decramer, Stephane
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Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
err2024-07-01
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errOAAI
errWong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Coward, Richard J.; Chrysochou, Tina; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R.; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A.; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick W. K.; Thomas, Kay; Turner, A. Neil; Walsh, Stephen B.; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Sy, Karla Therese L.; Huang, Kui; Ye, Jamie; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P.
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Thirst, Hunger, and Nephrogenic Diabetes Insipidus
err2024-05-30
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errOAAI
errBichet, Daniel G.; Bockenhauer, Detlef
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A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy
err2024-04-01
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errOAAI
errVoinescu, Catalin D.; Mozere, Monika; Genovese, Giulio; Downie, Mallory L.; Gupta, Sanjana; Gale, Daniel P.; Bockenhauer, Detlef; Kleta, Robert; Arcos-Burgos, Mauricio; Stanescu, Horia C.
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
errLANCET
IF88.5
err2024-03-01
err14
errOAAI
errWong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Chrysochou, Constantina; Coward, Richard J.; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R.; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A.; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick W. K.; Turner, Andrew Neil; Walsh, Stephen B.; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Taylor, Christopher Mark; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P.
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A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference
err2024-01-01
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errOAAI
errVanhove, Thibault; Aertgeerts, Margo; Witters, Peter; Rymen, Daisy; Bockenhauer, Detlef; Frans, Glynis; Vermeersch, Pieter
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