Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
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DOI: 10.1016/j.ymgme.2019.06.004
Abstract: Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency… read more here.
Keywords: adaptation; adaptation compensation; ctln2; citrin deficiency ... See more keywords