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| Title : Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party - |
| Author(s) : Lum SH , Minkov M , Jones SA , Hazelaar S , Sirait T , Potter JE , Stepensky P , Garban F , Pichler H , Stein J , Kaya Z , Schulz A , Mellgren K , Diaz de Heredia C , Pochon C , Riesco S , Diaz MA , Michel G , Lindemans C , Gruhn B , Albert MH , Lankester AC , Neven B , Wynn R |
| Ref : Bone Marrow Transplant , : , 2023 |
| PubMedID: 36788366 |
| Gene_locus related to this paper: human-LIPA |
| Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611 |
| Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B |
| Ref : Sci Immunol , 7 :eabi4611 , 2022 |
| Abstract : Harapas_2022_Sci.Immunol_7_eabi4611 |
| ESTHER : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |
| Title : The role of lipolysis in human orosensory fat perception - Voigt_2014_J.Lipid.Res_55_870 |
| Author(s) : Voigt N , Stein J , Galindo MM , Dunkel A , Raguse JD , Meyerhof W , Hofmann T , Behrens M |
| Ref : J Lipid Res , 55 :870 , 2014 |
| Abstract : Voigt_2014_J.Lipid.Res_55_870 |
| ESTHER : Voigt_2014_J.Lipid.Res_55_870 |
| PubMedSearch : Voigt_2014_J.Lipid.Res_55_870 |
| PubMedID: 24688103 |
| Title : Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation - Stein_2007_Eur.J.Pediatr_166_663 |
| Author(s) : Stein J , Garty BZ , Dror Y , Fenig E , Zeigler M , Yaniv I |
| Ref : Eur J Pediatr , 166 :663 , 2007 |
| Abstract : Stein_2007_Eur.J.Pediatr_166_663 |
| ESTHER : Stein_2007_Eur.J.Pediatr_166_663 |
| PubMedSearch : Stein_2007_Eur.J.Pediatr_166_663 |
| PubMedID: 17033804 |