Associated Papers
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C et al.
Bmc Medical Genetics, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
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