Bockenhauer, Detlef - University College London

个人简介

1985-88 Medical studies Universität Hamburg 1988-91 Staatsexamen

近期论文

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Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV Journal article; 2016; LANCET Links: IRIS | Author's Authors: Plumb LA,van't Hoff W,Kleta R,Reid C,Ashton E,Samuels M,Bockenhauer D click to collapse Clinical and molecular aspects of distal renal tubular acidosis in children Journal article; 2017; Pediatric Nephrology Links: IRIS Authors: Bockenhauer D,Besouw M,Bienias M,Walsh P,Kleta R,Van't Hoff ,Jenkins L,Ashton E click to collapse Hypomagnesemia and increased risk of New Onset Diabetes Mellitus after Transplantation in pediatric renal transplant recipients Journal article; 2017; Paediatric Nephrology Links: IRIS | UCL Discovery Authors: Bockenhauer D,Hayes W,Boyle S,Carroll A,Marks S click to collapse Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics? Journal article; 2017; Pediatric Nephrology Links: IRIS Authors: Bockenhauer D Nephrogenic diabetes insipidus. Journal article; 2017; Curr Opin Pediatr Links: IRIS | Author's | DOI Authors: Bockenhauer D,Bichet DG click to collapse Of dogs and men Journal article; 2017; European Journal of Human Genetics Links: IRIS | UCL Discovery | DOI Authors: Bockenhauer D,Kleta R click to collapse Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant Journal article; 2017; Acta Paediatrica Links: IRIS Authors: Bockenhauer D,Dufek S,Booth C,Carroll A,van?t Hoff W,Kleta R click to collapse Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Journal article; 2016; Kidney international Links: IRIS | UCL Discovery Authors: Clissold RL,Shaw-Smith C,Turnpenny P,Bunce B,Bockenhauer D,Kerecuk L,Waller S,Bowman P,Ford T,Ellard S,Hattersley AT,Bingham C click to collapse EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Journal article; 2016; Rare diseases (Austin, Tex.) Links: IRIS | UCL Discovery Authors: Abdelhadi O,Iancu D,Stanescu H,Kleta R,Bockenhauer D click to collapse EPIDEMIOLOGY OF PAEDIATRIC UROLITHIASIS IN A LARGE COHORT IN UK Conference presentation; 2016; Links: IRIS | Author's Authors: Dufek S,Issler N,Kleta R,Bockenhauer D,Smeulders N,van't Hoff W click to collapse Facial swelling in a child on chronic hemodialysis: Answers. Journal article; 2016; Pediatr Nephrol Links: IRIS | Author's | DOI Authors: Sawan ZA,El-Desoky SM,Shalaby MA,Bockenhauer D,Kari JA click to collapse Facial swelling in a child on chronic hemodialysis: Questions. Journal article; 2016; Pediatr Nephrol Links: IRIS | Author's | DOI Authors: Sawan ZA,El-Desoky SM,Shalaby MA,Bockenhauer D,Kari JA click to collapse Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Journal article; 2016; Molecular genetics & genomic medicine Links: IRIS | UCL Discovery | DOI Authors: Abdelhadi O,Iancu D,Tekman M,Stanescu H,Bockenhauer D,Kleta R click to collapse Genetic causes of hypomagnesemia, a clinical overview Journal article; 2016; Pediatric Nephrology Links: IRIS | UCL Discovery | DOI Authors: Viering DHHM,de Baaij JHF,Walsh SB,Kleta R,Bockenhauer D click to collapse Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant) Journal article; 2016; BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM Links: IRIS | Author's | DOI Authors: Bichet DG,Bockenhauer D click to collapse Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Journal article; 2016; Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association Links: IRIS | UCL Discovery Authors: Sekula P,Li Y,Stanescu HC,Wuttke M,Ekici AB,Bockenhauer D,Walz G,Powis SH,Kielstein JT,Brenchley P,Eckardt KU,Kronenberg F,Kleta R,Köttgen A click to collapse Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. Journal article; 2016; American journal of physiology. Renal physiology Links: IRIS | DOI Authors: Oliveira B,Kleta R,Bockenhauer D,Walsh SB click to collapse Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Journal article; 2016; Kidney Int Links: IRIS | UCL Discovery | Author's | DOI Authors: 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 click to collapse Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. Journal article; 2016; Hormone research in paediatrics Links: IRIS | UCL Discovery Authors: Improda N,Shah P,Güemes M,Gilbert C,Morgan K,Sebire N,Bockenhauer D,Hussain K click to collapse Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Journal article; 2016; Nephrol Dial Transplant Links: IRIS | Author's | DOI Authors: Zaniew M,Bökenkamp A,Ko?buc M,La Scola C,Baronio F,Niemirska A,Szczepa?ska M,Bürger J,La Manna A,Miklaszewska M,Rogowska-Kalisz A,Gellermann J,Zampetoglou A,Wasilewska A,Roszak M,Moczko J,Krzemie? A,Runowski D,Site? G,Za?uska-Le?niewska 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 click to collapse Non-accidental salt poisoning. Journal article; 2016; Archives of disease in childhood Links: IRIS | UCL Discovery | DOI Authors: Wallace D,Lichtarowicz-Krynska E,Bockenhauer D click to collapse