Area of research
Molecular Biology · Pathology and Forensic Medicine
Research interest
Research interests include Medicine, Intensive care medicine, Tubulopathy, Kidney disease, Internal medicine, and Nephrology.
Dent disease: clinical practice recommendations
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
Diagnosis 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
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points
Treatment and long-term outcome in primary distal renal tubular acidosis
Clinical and Genetic Spectrum of Bartter Syndrome Type 3
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule