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| Title : Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report - Kuranobu_2016_Hepatol.Res_46_477 |
| Author(s) : Kuranobu N , Murakami J , Okamoto K , Nishimura R , Murayama K , Takamura A , Umeda T , Eto Y , Kanzaki S |
| Ref : Hepatol Res , 46 :477 , 2016 |
| Abstract : Kuranobu_2016_Hepatol.Res_46_477 |
| ESTHER : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedSearch : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedID: 26385844 |
| Gene_locus related to this paper: human-LIPA |
| Title : A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease - Dairaku_2014_Mol.Genet.Metab_111_193 |
| Author(s) : Dairaku T , Iwamoto T , Nishimura M , Endo M , Ohashi T , Eto Y |
| Ref : Mol Genet Metab , 111 :193 , 2014 |
| Abstract : Dairaku_2014_Mol.Genet.Metab_111_193 |
| ESTHER : Dairaku_2014_Mol.Genet.Metab_111_193 |
| PubMedSearch : Dairaku_2014_Mol.Genet.Metab_111_193 |
| PubMedID: 24295952 |
| Gene_locus related to this paper: human-LIPA |