@misc{indiciae8dd95f181aed, title = {Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.}, author = {Alberto Izquierdo-Mart\&\#xed;nez and Jose Luis Rubio-Prieto and Ana Rodriguez-Rodriguez and Zoraima Mart\&\#xed;nez-Martos and Carmen Delgado-Pecell\&\#xed;n}, year = {2026}, doi = {10.1016/j.clinbiochem.2026.111151}, url = {https://pubmed.ncbi.nlm.nih.gov/42386022/}, note = {Source identifier: 42386022} }