Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.
- DOI
- 10.1016/j.clinbiochem.2026.111151
- Published
- 2026-07-01
- Container
- Clin Biochem
- Publisher
- Not recorded
- Open access
- no
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Cite this work
BibTeX
@article{allodium:10.1016/j.clinbiochem.2026.111151,
title = {Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.},
author = {Izquierdo-Martínez A and Rubio-Prieto JL and Rodriguez-Rodriguez A and Martínez-Martos Z and Delgado-Pecellín C.},
year = {2026},
journal = {Clin Biochem},
doi = {10.1016/j.clinbiochem.2026.111151},
url = {https://doi.org/10.1016/j.clinbiochem.2026.111151}
}RIS
TY - JOUR TI - Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis. AU - Izquierdo-Martínez A AU - Rubio-Prieto JL AU - Rodriguez-Rodriguez A AU - Martínez-Martos Z AU - Delgado-Pecellín C. PY - 2026 JO - Clin Biochem DO - 10.1016/j.clinbiochem.2026.111151 UR - https://doi.org/10.1016/j.clinbiochem.2026.111151 ER -
APA
A, I., JL, R., A, R., Z, M., & C., D. (2026). Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.. Clin Biochem. https://doi.org/10.1016/j.clinbiochem.2026.111151
Source records
- europe-pmc · retrieved 2026-09-27T09:24:05.291Z