| Title : Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase\/cholesteryl ester storage disease substudy - Reynolds_2018_J.Clin.Pathol_71_608 |
| Author(s) : Reynolds TM , Mewies C , Hamilton J , Wierzbicki AS |
| Ref : Journal of Clinical Pathology , 71 :608 , 2018 |
| Abstract : Reynolds_2018_J.Clin.Pathol_71_608 |
| ESTHER : Reynolds_2018_J.Clin.Pathol_71_608 |
| PubMedSearch : Reynolds_2018_J.Clin.Pathol_71_608 |
| PubMedID: 29358478 |
| Title : The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study - Neelamekam_2017_Orphanet.J.Rare.Dis_12_156 |
| Author(s) : Neelamekam S , Kwok S , Malone R , Wierzbicki AS , Soran H |
| Ref : Orphanet J Rare Dis , 12 :156 , 2017 |
| Abstract : Neelamekam_2017_Orphanet.J.Rare.Dis_12_156 |
| ESTHER : Neelamekam_2017_Orphanet.J.Rare.Dis_12_156 |
| PubMedSearch : Neelamekam_2017_Orphanet.J.Rare.Dis_12_156 |
| PubMedID: 28927429 |
| Title : Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency - Wierzbicki_2013_Expert.Opin.Biol.Ther_13_7 |
| Author(s) : Wierzbicki AS , Viljoen A |
| Ref : Expert Opin Biol Ther , 13 :7 , 2013 |
| Abstract : Wierzbicki_2013_Expert.Opin.Biol.Ther_13_7 |
| ESTHER : Wierzbicki_2013_Expert.Opin.Biol.Ther_13_7 |
| PubMedSearch : Wierzbicki_2013_Expert.Opin.Biol.Ther_13_7 |
| PubMedID: 23126631 |