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7. 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 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 Atherosclerosis; 2017 Oct; 265():124-132. PubMed ID: 28881270 [TBL] [Abstract][Full Text] [Related]
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10. A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. Shen JJ; Davis JL; Hong X; Laningham FH; Gelb MH; Kim GE J Pediatr Gastroenterol Nutr; 2020 Dec; 71(6):726-730. PubMed ID: 32740531 [TBL] [Abstract][Full Text] [Related]
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12. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Du H; Duanmu M; Witte D; Grabowski GA Hum Mol Genet; 1998 Sep; 7(9):1347-54. PubMed ID: 9700186 [TBL] [Abstract][Full Text] [Related]
13. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study. Burton BK; Feillet F; Furuya KN; Marulkar S; Balwani M J Hepatol; 2022 Mar; 76(3):577-587. PubMed ID: 34774639 [TBL] [Abstract][Full Text] [Related]
14. Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. Tietge UJ; Sun G; Czarnecki S; Yu Q; Lohse P; Du H; Grabowski GA; Glick JM; Rader DJ Hum Gene Ther; 2001 Feb; 12(3):279-89. PubMed ID: 11177564 [TBL] [Abstract][Full Text] [Related]
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