| 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 : Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement - Mela_1996_J.Hepatol_25_769 |
| Author(s) : Mela D , Artom A , Goretti R , Varagona G , Riolfo M , Ardoino S , Sanguineti G , Vitali A , Ricciardi S |
| Ref : Journal of Hepatology , 25 :769 , 1996 |
| Abstract : |
| PubMedSearch : Mela_1996_J.Hepatol_25_769 |
| PubMedID: 8938558 |