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| Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716 |
| Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP |
| Ref : J Clin Lipidol , 9 :716 , 2015 |
| Abstract : Pullinger_2015_J.Clin.Lipidol_9_716 |
| ESTHER : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| Gene_locus related to this paper: human-LIPA |
| Title : New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease) - |
| Author(s) : Gomez-Najera M , Barajas-Medina H , Gallegos-Rivas MC , Mendez-Sashida P , Goss KA , Sims KB , Tripuraneni R , Valles-Ayoub Y |
| Ref : J Pediatr Gastroenterol Nutr , 60 :e22 , 2015 |
| PubMedID: 24048164 |
| Gene_locus related to this paper: human-LIPA |
| Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135 |
| Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG |
| Ref : Journal of Hepatology , 61 :1135 , 2014 |
| Abstract : Valayannopoulos_2014_J.Hepatol_61_1135 |
| ESTHER : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedID: 24993530 |
| Gene_locus related to this paper: human-LIPA |