| Title : Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>\;A) in various racial and ethnic groups - Scott_2013_Hepatology_58_958 |
| Author(s) : Scott SA , Liu B , Nazarenko I , Martis S , Kozlitina J , Yang Y , Ramirez C , Kasai Y , Hyatt T , Peter I , Desnick RJ |
| Ref : Hepatology , 58 :958 , 2013 |
| Abstract : |
| PubMedSearch : Scott_2013_Hepatology_58_958 |
| PubMedID: 23424026 |
| Title : Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease - Bernstein_2013_J.Hepatol_58_1230 |
| Author(s) : Bernstein DL , Hulkova H , Bialer MG , Desnick RJ |
| Ref : Journal of Hepatology , 58 :1230 , 2013 |
| Abstract : |
| PubMedSearch : Bernstein_2013_J.Hepatol_58_1230 |
| PubMedID: 23485521 |
| Gene_locus related to this paper: human-LIPA |
| Title : Cholesteryl ester storage disease: pathologic changes in an affected fetus - Desai_1987_Am.J.Med.Genet_26_689 |
| Author(s) : Desai PK , Astrin KH , Thung SN , Gordon RE , Short MP , Coates PM , Desnick RJ |
| Ref : American Journal of Medicine Genet , 26 :689 , 1987 |
| Abstract : |
| PubMedSearch : Desai_1987_Am.J.Med.Genet_26_689 |
| PubMedID: 3565483 |