Detlef Bockenhauer

41PUBLICATIONS
153CO-AUTHORS
NeonatologyFood properties (incl. characteristics and health benefits)Medical biochemistry - amino acids and metabolitesGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (41)

|Jun 30, 2026
Chronic hyponatraemia with a reset osmostat: when abnormal is normal.

|May 02, 2026
Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?

|Feb 11, 2026
Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.

J Christopher Hennings, Keerthana S Murthy, Nicolas Picard

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Jan 21, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Myrte Daenen, Marguerite Hureaux, Emma Ashton

|Jan 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Dieter Haffner, Francesco Emma, Lothar Seefried

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Frequent Collaborators

8 joint publications

Robert Kleta

7 joint publications

Francesco Emma

4 joint publications

Daniel P Gale

4 joint publications

Dieter Haffner