Article
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Molecular genetics and metabolism - 1 Jul 2012
Casey Jillian P, McGettigan Paul, Lynam-Lennon Niamh, McDermott Michael, Regan Regina, Conroy Judith, Bourke Billy, O'Sullivan Jacintha, Crushell Ellen, Lynch SallyAnn, Ennis Sean
Abstract excerpt
Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller family that includes six individuals presenting with acute liver failure in the first few months of life. Additional symptoms include anaemia, renal tubulopathy, developmental delay, seizures, failure to thrive and deterioration of liver function with minor...
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