| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D |
| Ref : Orphanet J Rare Dis , 5 :33 , 2010 |
| Abstract : |
| PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedID: 21122093 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation - Ronchetti_2008_J.Hepatol_49_474 |
| Author(s) : Ronchetti A , Prati D , Pezzotta MG , Tavian D , Colombo R , Callea F , Colli A |
| Ref : Journal of Hepatology , 49 :474 , 2008 |
| Abstract : |
| PubMedSearch : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedID: 18644654 |
| Gene_locus related to this paper: human-ABHD5 |