Detlef Bockenhauer

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 35

Top Topics

Polycystic Kidney Disease

Top Venues

Pediatric nephrology (Berlin, Germany)

Journal of the American Society of Nephrology : JASN

Nature reviews. Nephrology

Acta paediatrica (Oslo, Norway : 1992)

This page only lists publications with an associated author ORCID identifier.

Publications

Detlef Bockenhauer, Olivia Boyer
Less or later: Treatment dilemmas in congenital nephrotic syndrome. Acta paediatrica (Oslo, Norway : 1992) 113 (8) (2024)
Detlef Bockenhauer, Olivia Boyer
Less or later: Treatment dilemmas in congenital nephrotic syndrome. Acta paediatrica (Oslo, Norway : 1992) (2024)
Hai Liang Tan, Matko Marlais, Faidra Veligratli, Sarit Shah, Wesley Hayes, Detlef Bockenhauer
Treatment of paediatric renal tubular acidosis with a prolonged-release alkali supplementation. Pediatric nephrology (Berlin, Germany) (2024)
Detlef Bockenhauer, Olivia Boyer
Less or later: Treatment dilemmas in congenital nephrotic syndrome. Acta paediatrica (Oslo, Norway : 1992) 113 (8) (2024)
Detlef Bockenhauer, Horia Stanescu
Distal renal tubular acidosis and WDR72: some answers, more questions. Pediatric nephrology (Berlin, Germany) (2024)
Marcelien Verjans, An Hindryckx, Karen Rosier, Koen Devriendt, Djalila Mekahli, Detlef Bockenhauer
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2. Pediatric nephrology (Berlin, Germany) 39 (10) (2024)
Marcelien Verjans, An Hindryckx, Karen Rosier, Koen Devriendt, Djalila Mekahli, Detlef Bockenhauer
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2. Pediatric nephrology (Berlin, Germany) (2024)
Marcelien Verjans, An Hindryckx, Karen Rosier, Koen Devriendt, Djalila Mekahli, Detlef Bockenhauer
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2. Pediatric nephrology (Berlin, Germany) 39 (10) (2024)
Savitha Shenoy, Detlef Bockenhauer
Challenges in using fractional excretion of sodium in the assessment of salt poisoning. Acta paediatrica (Oslo, Norway : 1992) (2023)
Zainab Arslan, Elizabeth Watson, Detlef Bockenhauer
Ascertaining pathogenicity of genetic variants: caution required. Pediatric nephrology (Berlin, Germany) (2023)
Faidra Veligratli, Demitra Alexandrou, Sarit Shah, Rakesh Amin, Mehul Dattani, Hoong-Wei Gan, Adeola Famuboni, Camilo Lopez-Garcia, Richard Trompeter, Detlef Bockenhauer
Tolvaptan and urea in paediatric hyponatraemia. Pediatric nephrology (Berlin, Germany) (2023)
Carsten Alexander Wagner, Robert John Unwin, Sergio C Lopez-Garcia, Robert Kleta, Detlef Bockenhauer, Stephen Walsh
The pathophysiology of distal renal tubular acidosis. Nature reviews. Nephrology (2023)
Detlef Bockenhauer, Nine V A M Knoers, Daniel G Bichet
What's in a name? That which we call diabetes does not taste sweet! Pediatric nephrology (Berlin, Germany) (2022)
Mallory Downie, Rukshana Shroff, Detlef Bockenhauer
Is my PET in my genes? Pediatric nephrology (Berlin, Germany) 37 (6) (2022)
Martin T Christian, Nicholas J A Webb, Rebecca L Woolley, Nafsika Afentou, Samir Mehta, Emma Frew, Elizabeth A Brettell, Adam R Khan, David V Milford, Detlef Bockenhauer, Moin A Saleem, Angela S Hall, Ania Koziell, Heather Maxwell, Shivaram Hegde, Eric R Finlay, Rodney D Gilbert, Caroline Jones, Karl McKeever, Wendy Cook, Natalie J Ives
Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT. Health technology assessment (Winchester, England) 26 (3) (2022)
Detlef Bockenhauer, Robert Kleta
Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling. Pediatric nephrology (Berlin, Germany) 36 (8) (2021)
Francesco Trepiccione, Steven B Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepanska, Velibor Tasic, Rezan Topaloğlu, Rosa Vargas-Poussou, Tanja Wlodkowski, Detlef Bockenhauer
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 36 (9) (2021)
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay-Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular genetics & genomic medicine (2021)
Karl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, Anna-Lena Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stephanie Tellier, Caroline Rousset-Rouvière, Daan H H M Viering, Jeroen H F de Baaij, Stefanie Weber, Oleg Palygin, Alexander Staruschenko, Robert Kleta, Pascal Houillier, Detlef Bockenhauer, Olivier Devuyst, Rosa Vargas-Poussou, Richard Warth, Anselm A Zdebik, Martin Konrad
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology : JASN 32 (6) (2021)
Daniel P Gale, Andrew Mallett, Chirag Patel, Tam P Sneddon, Michael J Bamshad, Matthew Gordon Sampson, Detlef Bockenhauer
Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature reviews. Nephrology 16 (11) (2021)
Larissa P Govers, Hakan R Toka, Ali Hariri, Stephen B Walsh, Detlef Bockenhauer
Mitochondrial DNA mutations in renal disease: an overview. Pediatric nephrology (Berlin, Germany) 36 (1) (2020)
Mallory L Downie, Sergio C Lopez Garcia, Robert Kleta, Detlef Bockenhauer
Inherited Tubulopathies of the Kidney: Insights from Genetics. Clinical journal of the American Society of Nephrology : CJASN 16 (4) (2020)
Eszter Balogh, Jennifer C Chandler, Máté Varga, Mona Tahoun, Dóra K Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felice D'Arco, Marios Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H Saied, Salah Marzouk, Kata Kelen, Judit Götze, George S Reusz, Tivadar Tulassay, François Dragon, Geraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J Szabo, David A Long, Kazunori Tomita, Corinne Antignac, Aoife M Waters, Kálmán Tory
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America 117 (26) (2020)
Charlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, Luc Breysem, Melissa A Cadnapaphornchai, Metin Cetiner, Jan Dudley, Francesco Emma, Martin Konrad, Tess Harris, Peter C Harris, Jens König, Max Christoph Liebau, Matko Marlais, Djalila Mekahli, Alison M Metcalfe, Jun Oh, Ronald D Perrone, Manish D Sinha, Andrea Titieni, Roser Torra, Stefanie Weber, Paul J D Winyard, Franz Schaefer
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nature reviews. Nephrology 15 (11) (2020)
Cristina Bertulli, Marguerite Hureaux, Chiara De Mutiis, Andrea Pasini, Detlef Bockenhauer, Rosa Vargas-Poussou, Claudio La Scola
A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis. Children (Basel, Switzerland) 7 (11) (2020)
Dieter Haffner, Francesco Emma, Deborah M Eastwood, Martin Biosse Duplan, Justine Bacchetta, Dirk Schnabel, Philippe Wicart, Detlef Bockenhauer, Fernando Santos, Elena Levtchenko, Pol Harvengt, Martha Kirchhoff, Federico Di Rocco, Catherine Chaussain, Maria Louisa Brandi, Lars Savendahl, Karine Briot, Peter Kamenicky, Lars Rejnmark, Agnès Linglart
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nature reviews. Nephrology 15 (7) (2020)
Daniel G Bichet, Sébastien Granier, Detlef Bockenhauer
GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis. Journal of the American Society of Nephrology : JASN 30 (5) (2019)
Stephanie Dufek, Chris Cheshire, Adam P Levine, Richard S Trompeter, Naomi Issler, Matthew Stubbs, Monika Mozere, Sanjana Gupta, Enriko Klootwijk, Vaksha Patel, Daljit Hothi, Aoife Waters, Hazel Webb, Kjell Tullus, Lucy Jenkins, Lighta Godinho, Elena Levtchenko, Jack Wetzels, Nine Knoers, Nynke Teeninga, Jeroen Nauta, Mohamed Shalaby, Sherif Eldesoky, Jameela A Kari, Shenal Thalgahagoda, Randula Ranawaka, Asiri Abeyagunawardena, Adebowale Adeyemo, Mark Kristiansen, Rasheed A Gbadegesin, Nicholas J Webb, Daniel P Gale, Horia C Stanescu, Robert Kleta, Detlef Bockenhauer
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. Journal of the American Society of Nephrology : JASN 30 (8) (2019)
Mallory L Downie, Detlef Bockenhauer
Swimming with the fishes: delineating tubular transport pathways for magnesium. Pflugers Archiv : European journal of physiology 471 (6) (2019)
Sonia Sharma, Emma Ashton, Daniela Iancu, Marie-Francoise Arthus, Wesley Hayes, William Van't Hoff, Robert Kleta, Daniel G Bichet, Detlef Bockenhauer
Long-term outcome in inherited nephrogenic diabetes insipidus. Clinical kidney journal 12 (2) (2018)
Markus Reichold, Enriko D Klootwijk, Joerg Reinders, Edgar A Otto, Mario Milani, Carsten Broeker, Chris Laing, Julia Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J Oefner, Katja Dettmer, Johann M Simbuerger, Ralph Witzgall, Horia C Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B Walsh, Daniel P Gale, Alexander J Howie, Joana R Martins, Andrew M Hall, Michael Kasgharian, Kevin O'Brien, Carlos R Ferreira, Paldeep S Atwal, Mahim Jain, Alexander Hammers, Geoffrey Charles-Edwards, Chi-Un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Benjamin Davies, Richard N Sandford, Christopher Pugh, David S Konecki, Sue Povey, Detlef Bockenhauer, Uta Lichter-Konecki, William A Gahl, Robert J Unwin, Richard Warth, Robert Kleta
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology : JASN 29 (7) (2018)
Robert Kleta, Detlef Bockenhauer
Salt-Losing Tubulopathies in Children: What's New, What's Controversial? Journal of the American Society of Nephrology : JASN 29 (3) (2017)
Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E B Kokash, Abdul R A Bakhsh, William Van't Hoff, Stephen B Walsh, Felice D'Arco, Arezoo Daryadel, Soline Bourgeois, Carsten Alexander Wagner, Robert Kleta, Detlef Bockenhauer, John Andrew Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. Journal of the American Society of Nephrology : JASN 29 (3) (2017)
Patrick R Walsh, Yincent Tse, Emma Ashton, Daniela Iancu, Lucy Jenkins, Marc Bienias, Robert Kleta, William Van't Hoff, Detlef Bockenhauer
Clinical and diagnostic features of Bartter and Gitelman syndromes. Clinical kidney journal 11 (3) (2017)
Detlef Bockenhauer
Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics? Pediatric nephrology (Berlin, Germany) 32 (5) (2017)