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              pthaigastro.org
             34.  Braverman NE, D’Agostino MD, Maclean GE.  Peroxisome biogenesis disorders: biological, clinical and
                pathophysiological perspectives. Dev Disabil Res Rev 2013;17:187-96.

             35.  Pugliese A, Beltramo T, Torre D.  Reye’s and Reye’s-like syndromes. Cell Biochem Funct 2008;26:741-6.
             36.  Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, et al.  Diagnosis and
                treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
                Genet Med 2017;19.
             37.  de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, et al.  Recommendations for
                the management of tyrosinaemia type 1. Orphanet J Rare Dis 2013;8:8.
             38.  Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, et al.  Cross-sectional
                study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet
                J Rare Dis 2014;9:107.

             39.  McKiernan PJ, Preece MA, Chakrapani A.  Outcome of children with hereditary tyrosinaemia following
                newborn screening. Arch Dis Child 2015;100:738-41.
             40.  Bigot A, Tchan MC, Thoreau B, Blasco H, Maillot F.  Liver involvement in urea cycle disorders: a review
                of the literature. J Inherit Metab Dis 2017;40:757-69.
             41.  Treepongkaruna S, Jitraruch S, Kodcharin P, Charoenpipop D, Suwannarat P, Pienvichit P, et al. Neonatal
                intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai
                infants. BMC Gastroenterol 2012;12:141.
             42.  Clayton PT.  Disorders of bile acid synthesis. J Inherit Metab Dis 2011;34:593-604.
             43.  Sundaram SS, Bove KE, Lovell MA, Sokol RJ.  Mechanisms of disease: inborn errors of bile acid
                synthesis. Nat Clin Pract Gastroenterol Hepatol 2008;5:456-68.
             44.  MacNeill EC, Walker CP.  Inborn errors of metabolism in the emergency department (undiagnosed and

                management of the known). Emerg Med Clin North Am 2018;36:369-85.
             45.  Matoori S, Leroux JC.  Recent advances in the treatment of hyperammonemia. Adv Drug Deliv Rev
                2015;90:55-68.
             46.  Saito A.  Current progress in blood purification methods used in critical care medicine. Contrib Nephrol
                2010;166:100-11.
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