43bb658f1022b1e2678d37b90543a555 pmc_9796151.pdf 825cdf13c7fb2dd151dc4be9987beb067bac32fb pmc_9796151.pdf eda972da254aa5d6ebea3ae40b650e9c7924c4b741689c5ffecc1ec1524b712f pmc_9796151.pdf Title: Beneficial effect of ursodeoxycholic acid in patients with ACOX2 deficiency-associated hypertransaminasemia Creator: Adobe InDesign 15.1 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Sat Oct 1 07:30:02 2022 CEST ModDate: Sat Oct 1 07:30:30 2022 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 16 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 3723760 bytes Optimized: yes PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- SBUPAE+Arial-ItalicMT TrueType WinAnsi yes yes yes 565 0 SBUPAE+ArialMT TrueType WinAnsi yes yes yes 566 0 DCHDYI+Arial-BoldMT TrueType WinAnsi yes yes yes 567 0 NEFGIO+STIX-Regular Type 1C Custom yes yes yes 382 0 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acid in patients with acyl-­CoA oxidase 2 (ACOX2) deficiency–­associated hypertransaminasemia Children: Item: Title: Abstract Item: Title: INTRODUCTION Item: Title: MATERIALS AND METHODS Children: Item: Title: Reagents and cell lines Item: Title: Human samples Item: Title: Analytical methods Item: Title: Genetic analysis and gene expression Item: Title: Histological assessment Item: Title: Immunohistochemistry, immunoblotting, and immunofluorescence Item: Title: Functional study of ACOX2 variants Item: Title: Toxicity and cell stress studies Item: Title: In silico prediction of dysfunctional ACOX2 variants Item: Title: Transport assays Item: Title: RESULTS Children: Item: Title: Patients with idiopathic hypertransaminasemia Children: Item: Title: Case 1 Item: Title: Case 2 Item: Title: Case 3 Item: Title: Case 4 Item: Title: Immunohistochemistry studies Item: Title: C27-­BA–­induced toxicity Item: Title: Potentially harmful ACOX2 variants Item: Title: DISCUSSION Item: Title: AUTHOR 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