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doi: 10.1111/nure.12150
doi: 10.1183/23120541.00334-2021 4 RingshausenFCRademacherJPinkIde RouxAHicksteinLPlonerTet al
Neonatal presentation includes hepatosplenomegaly, bleeding diathesis, abnormal liver function, cholestatic jaundice, and elevated liver function enzymes
doi: 10.1016/j.bcp.2004.06.013
