TY  - RPRT
TI  - Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.
AU  - Alberto Izquierdo-Martínez
AU  - Jose Luis Rubio-Prieto
AU  - Ana Rodriguez-Rodriguez
AU  - Zoraima Martínez-Martos
AU  - Carmen Delgado-Pecellín
PY  - 2026
DO  - 10.1016/j.clinbiochem.2026.111151
UR  - https://pubmed.ncbi.nlm.nih.gov/42386022/
ID  - 42386022
ER  -