| Title : Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients - Dehnavi_2023_Orphanet.J.Rare.Dis_18_177 |
| Author(s) : Dehnavi AZ , Bemanalizadeh M , Kahani SM , Ashrafi MR , Rohani M , Toosi MB , Heidari M , Hosseinpour S , Amini B , Zokaei S , Rezaei Z , Aryan H , Amanat M , Vahidnezhad H , Mohammadi P , Garshasbi M , Tavasoli AR |
| Ref : Orphanet J Rare Dis , 18 :177 , 2023 |
| Abstract : |
| PubMedSearch : Dehnavi_2023_Orphanet.J.Rare.Dis_18_177 |
| PubMedID: 37403138 |
| Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366 |
| Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J |
| Ref : Journal of Hepatology , 71 :366 , 2019 |
| Abstract : |
| PubMedSearch : Youssefian_2019_J.Hepatol_71_366 |
| PubMedID: 30954460 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects - |
| Author(s) : Youssefian L , Touati A , Vahidnezhad H , Saeidian AH , Sotoudeh S , Zeinali S , Uitto J |
| Ref : Br J Dermatol , 178 :e219 , 2018 |
| PubMedID: 29023646 |