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Author Details

Detlef Bockenhauer
Great Ormond Street Hospital for Children, NHS Foundation Trust
1999
224
50
PMIDPaper TitleJournal TitlePublished Year
36853022Challenges in using fractional excretion of sodium in the assessment of salt poisoning.Acta Paediatr2024
38042745Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review.Best Pract Res Clin Endocrinol Metab2024
37466863Tolvaptan and urea in paediatric hyponatraemia.Pediatr Nephrol2024
36117148Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.J Inherit Metab Dis2023
37612755Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.Genome Med2023
37547536Common Risk Variants in <i>AHI1</i> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.Kidney Int Rep2023
37576796Two Brothers from Macedonia with Gitelman Syndrome.Balkan J Med Genet2023
35802272Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?Pediatr Nephrol2023
35471462Child and caregiver perspectives on access to psychosocial and educational support in pediatric chronic kidney disease: a focus group study.Pediatr Nephrol2023
37090184A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy.Glomerular Dis2023
37016093The pathophysiology of distal renal tubular acidosis.Nat Rev Nephrol2023
37414395Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.Kidney Int2023
37327191Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan.J Pediatr Endocrinol Metab2023
36717209Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels.Arch Dis Child2023
36809442Ascertaining pathogenicity of genetic variants: caution required.Pediatr Nephrol2023
36773065Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.Hum Genet2023
36369299What's in a name? That which we call diabetes does not taste sweet!Pediatr Nephrol2023
36357634Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.Pediatr Nephrol2023
34086937Patient and caregiver perspectives on blood pressure in children with chronic kidney disease.Nephrol Dial Transplant2022
36815103Shockwaves and the Rolling Stones: An Overview of Pediatric Stone Disease.Kidney Int Rep2022
36938092Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.Kidney Int Rep2022
36168067Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".Eur J Nutr2022
36124557Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves.Elife2022
35314052Absent abdominal musculature in a girl.Kidney Int2022
35006361Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.Pediatr Nephrol2022
35149593A Founder Mutation in <i>EHD1</i> Presents with Tubular Proteinuria and Deafness.J Am Soc Nephrol2022
35085686Perspectives of Clinicians on Shared Decision Making in Pediatric CKD: A Qualitative Study.Am J Kidney Dis2022
35060851Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT.Health Technol Assess2022
35325895Genetic Testing and FOX News.Am J Nephrol2022
35137195Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.Nephrol Dial Transplant2022
34928294Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial.JAMA Pediatr2022
35079873Is my PET in my genes?Pediatr Nephrol2022
34608521Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.Pediatr Nephrol2022
34607911Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.J Am Soc Nephrol2022
32494811The hypokalemia mystery: distinguishing Gitelman and Bartter syndromes from 'pseudo-Bartter syndrome'.Nephrol Dial Transplant2021
33514942Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.Nat Rev Nephrol2021
33509356Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.Kidney Int2021
33811480Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).Mol Genet Genomic Med2021
33811157Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.J Am Soc Nephrol2021
33914889Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.Nephrol Dial Transplant2021
34957696Quantification of FAM20A in human milk and identification of calcium metabolism proteins.Physiol Rep2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33941901Publisher Correction: Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.Nat Rev Nephrol2021
34078418The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.Orphanet J Rare Dis2021
34237326An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.Kidney Int2021
34198293Epidemiology of Distal Renal Tubular Acidosis: A Study Using Linked UK Primary Care and Hospital Data.Nephron2021
34169208Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.Kidney Int Rep2021
34143300Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.Pediatr Nephrol2021
31925537Mitochondrial DNA mutations in renal disease: an overview.Pediatr Nephrol2021
33084934Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.Pediatr Nephrol2021
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Collaborators

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Boston Children's Hospital
Co-authored papers 12
Neil J Sebire
NIHR Great Ormond Street Biomedical Research Centre
Co-authored papers 11
Franz Schaefer
University Children's Hospital Heidelberg
Co-authored papers 10
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Debbie S Gipson
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Co-authored papers 9
Francesco Emma
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Royal Devon University Healthcare NHS Foundation Trust
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The Rockefeller University
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Adrian S Woolf
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UCL Great Ormond Street Institute of Child Health, University College London
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Anna K??ttgen
Institute of Genetic Epidemiology, Medical Center-University of Freiburg
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Alan Medlar
Institute of Biotechnology, University of Helsinki
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Marieke J H Coenen
Co-authored papers 3
Jun Oh
Konyang University Hospital
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Kai-Uwe Eckardt
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John A Sayer
Translational and Clinical Research Institute, Newcastle University
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Tom D Blydt-Hansen
BC Children's Hospital, University of British Columbia
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Peter J Oefner
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Release 1.2