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| Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124 |
| Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 265 :124 , 2017 |
| Abstract : Pisciotta_2017_Atherosclerosis_265_124 |
| ESTHER : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene - Rabacchi_2016_J.Clin.Lipidol_10_915 |
| Author(s) : Rabacchi C , D'Addato S , Palmisano S , Lucchi T , Bertolini S , Calandra S , Tarugi P |
| Ref : J Clin Lipidol , 10 :915 , 2016 |
| Abstract : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| ESTHER : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedSearch : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedID: 27578123 |