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| Title : A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings - Eskiocak_2019_Lipids.Health.Dis_18_232 |
| Author(s) : Eskiocak AH , Missaglia S , Moro L , Durdu M , Tavian D |
| Ref : Lipids Health Dis , 18 :232 , 2019 |
| Abstract : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| ESTHER : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedSearch : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedID: 31883530 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88 |
| Author(s) : Durdu M , Missaglia S , Moro L , Tavian D |
| Ref : BMC Med Genet , 19 :88 , 2018 |
| Abstract : Durdu_2018_BMC.Med.Genet_19_88 |
| ESTHER : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedID: 29843625 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement - Missaglia_2017_Neuromuscul.Disord_27_481 |
| Author(s) : Missaglia S , Maggi L , Mora M , Gibertini S , Blasevich F , Agostoni P , Moro L , Cassandrini D , Santorelli FM , Gerevini S , Tavian D |
| Ref : Neuromuscular Disorders , 27 :481 , 2017 |
| Abstract : Missaglia_2017_Neuromuscul.Disord_27_481 |
| ESTHER : Missaglia_2017_Neuromuscul.Disord_27_481 |
| PubMedSearch : Missaglia_2017_Neuromuscul.Disord_27_481 |
| PubMedID: 28258942 |
| Title : Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter - Missaglia_2014_BMC.Med.Genet_15_32 |
| Author(s) : Missaglia S , Valadares ER , Moro L , Faguntes ED , Quintao Roque R , Giardina B , Tavian D |
| Ref : BMC Med Genet , 15 :32 , 2014 |
| Abstract : Missaglia_2014_BMC.Med.Genet_15_32 |
| ESTHER : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedSearch : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedID: 24628803 |
| Gene_locus related to this paper: human-ABHD5 |
| 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 : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| ESTHER : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedID: 21122093 |
| Gene_locus related to this paper: human-ABHD5 |