Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis​​on July 19, 2026 at 2:31 pm

Publication date: October 2026

Source: Clinical Biochemistry, Volume 145

Author(s): Alberto Izquierdo-Martínez, Jose Luis Rubio-Prieto, Ana Rodriguez-Rodriguez, Zoraima Martínez-Martos, Carmen Delgado-Pecellín