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| Title : Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights - Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| Author(s) : Cappuccio G , Donti TR , Hubert L , Sun Q , Elsea SH |
| Ref : J Inherit Metab Dis , 42 :509 , 2019 |
| Abstract : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| ESTHER : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| PubMedSearch : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| PubMedID: 30684275 |
| Gene_locus related to this paper: human-LIPA |
| Title : Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease - Jones_2014_Biol.Open_3_342 |
| Author(s) : Jones MA , Amr S , Ferebee A , Huynh P , Rosenfeld JA , Miles MF , Davies AG , Korey CA , Warrick JM , Shiang R , Elsea SH , Girirajan S , Grotewiel M |
| Ref : Biol Open , 3 :342 , 2014 |
| Abstract : Jones_2014_Biol.Open_3_342 |
| ESTHER : Jones_2014_Biol.Open_3_342 |
| PubMedSearch : Jones_2014_Biol.Open_3_342 |
| PubMedID: 24705017 |
| Gene_locus related to this paper: drome-CG12108 |