Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries
J Inherit Metab Dis. 2025 Jan;48(1):e12824. doi: 10.1002/jimd.12824. ABSTRACT Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal …