Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
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DOI: 10.1002/jimd.12206
Abstract: To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. We designed a highâthroughput iPLEX genotyping assay to detect 28 SLC25A13… read more here.
Keywords: genetic screening; screening; cholestasis caused; screening neonatal ... See more keywords