Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis

Clinical Biochemistry · Published 2026-07-01 · DOI 10.1016/j.clinbiochem.2026.111151

Authors (5)

Alberto Izquierdo-Martínez, Jose Luis Rubio-Prieto, Ana Rodriguez-Rodriguez, Zoraima Martínez-Martos, Carmen Delgado-Pecellín

Abstract

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Publication details

Year

2026

Citation

Izquierdo-Martínez, A., Rubio-Prieto, J., Rodriguez-Rodriguez, A., et al. (2026). Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis. Clinical Biochemistry. https://doi.org/10.1016/j.clinbiochem.2026.111151

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