| Title : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G |
| Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013 |
| Abstract : |
| PubMedSearch : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| PubMedID: 22795295 |
| Gene_locus related to this paper: human-LIPA |
| Title : Fatal genetic defect causing Wolman disease. - |
| Author(s) : Mayatepek E , Seedorf U , Wiebusch H , Lenhartz H , Assmann G |
| Ref : J Inherit Metab Dis , 22 :93 , 1999 |
| PubMedID: 10070628 |
| Gene_locus related to this paper: human-LIPA |
| Title : Cloning and sequencing of a novel murine liver carboxylesterase cDNA - Ellinghaus_1998_Biochim.Biophys.Acta_1397_175 |
| Author(s) : Ellinghaus P , Seedorf U , Assmann G |
| Ref : Biochimica & Biophysica Acta , 1397 :175 , 1998 |
| Abstract : |
| PubMedSearch : Ellinghaus_1998_Biochim.Biophys.Acta_1397_175 |
| PubMedID: 9565681 |
| Gene_locus related to this paper: mouse-Ces1g |
| Title : A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations - Muntoni_1996_Hum.Genet_97_265 |
| Author(s) : Muntoni S , Wiebusch H , Funke H , Seedorf U , Roskos M , Schulte H , Saku K , Arakawa K , Balestrieri A , Assmann G |
| Ref : Hum Genet , 97 :265 , 1996 |
| Abstract : |
| PubMedSearch : Muntoni_1996_Hum.Genet_97_265 |
| PubMedID: 8566968 |
| Title : A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD) - |
| Author(s) : Wiebusch H , Muntoni S , Funke H , Lu F , Seedorf U , Oberle S , Schwarzer U , Assmann G |
| Ref : Clin Genet , 50 :106 , 1996 |
| PubMedID: 8937772 |
| Title : Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) - Muntoni_1995_Hum.Genet_95_491 |
| Author(s) : Muntoni S , Wiebusch H , Funke H , Ros E , Seedorf U , Assmann G |
| Ref : Hum Genet , 95 :491 , 1995 |
| Abstract : |
| PubMedSearch : Muntoni_1995_Hum.Genet_95_491 |
| PubMedID: 7759067 |
| Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| Author(s) : Seedorf U , Wiebusch H , Muntoni S , Christensen NC , Skovby F , Nickel V , Roskos M , Funke H , Ose L , Assmann G |
| Ref : Arterioscler Thromb Vasc Biol , 15 :773 , 1995 |
| Abstract : |
| PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedID: 7773732 |
| Gene_locus related to this paper: human-LIPA |