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Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
Orphanet J Rare Dis 5: 33

Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A (2008)
Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation
Journal of Hepatology 49: 474