Return to top
References: 1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. doi:10.1016/j.ymgme.2015.12.009. 2. Berendse K, Engelen M, Ferdinandusse S, et al. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis. 2016;39(1):93-106. doi:10.1007/s10545-015-9880-2. 3. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM. Peroxisomal disorders in neurology. J Neurol Sci. 1988;88:1-39. 4. Baes M, Van Veldhoven PP. Hepatic dysfunction in peroxisomal disorders. Biochim Biophys Acta. 2016;1863(5):956-970. doi:10.1016/j.bbamcr.2015.09.035. 5. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi:10.1186/s13023-015-0368-9. 6. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9259-3.
References: 1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. doi:10.1016/j.ymgme.2015.12.009. 2. Berendse K, Engelen M, Ferdinandusse S, et al. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis. 2016;39(1):93-106. doi:10.1007/s10545-015-9880-2. 3. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM. Peroxisomal disorders in neurology. J Neurol Sci. 1988;88:1-39. 4. Baes M, Van Veldhoven PP. Hepatic dysfunction in peroxisomal disorders. Biochim Biophys Acta. 2016;1863(5):956-970. doi:10.1016/j.bbamcr.2015.09.035. 5. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi:10.1186/s13023-015-0368-9. 6. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9259-3. 7. Smith JS, Aitchison JD. Peroxisomes take shape. Nat Rev Mol Cell Biol. 2013;14(12):803-817. doi:10.1038/nm3700. 8. Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008;5(8):456-468. doi:10.1038/ncpgasthep1179. 9. Bove KE, Heubi JE, Balistreri WF, Setchell KDR. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol. 2004;7(4):315-334. doi:10.1007/s10024-002-1201-8. 10. Setchell KDR, Heubi JE. Defects in bile acid biosynthesis–diagnosis and treatment. J Pediatr Gastroenterol Nutr. 2006;43(1):S17-S22.
References: 1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. doi:10.1016/j.ymgme.2015.12.009. 2. Berendse K, Engelen M, Ferdinandusse S, et al. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis. 2016;39(1):93-106. doi:10.1007/s10545-015-9880-2. 3. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM. Peroxisomal disorders in neurology. J Neurol Sci. 1988;88:1-39. 4. Baes M, Van Veldhoven PP. Hepatic dysfunction in peroxisomal disorders. Biochim Biophys Acta. 2016;1863(5):956-970. doi:10.1016/j.bbamcr.2015.09.035. 5. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi:10.1186/s13023-015-0368-9. 6. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9259-3. 7. Smith JS, Aitchison JD. Peroxisomes take shape. Nat Rev Mol Cell Biol. 2013;14(12):803-817. doi:10.1038/nm3700. 8. Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008;5(8):456-468. doi:10.1038/ncpgasthep1179. 9. Bove KE, Heubi JE, Balistreri WF, Setchell KDR. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol. 2004;7(4):315-334. doi:10.1007/s10024-002-1201-8. 10. Setchell KDR, Heubi JE. Defects in bile acid biosynthesis–diagnosis and treatment. J Pediatr Gastroenterol Nutr. 2006;43(1):S17-S22.
References: 1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. doi:10.1016/j.ymgme.2015.12.009. 2. Berendse K, Engelen M, Ferdinandusse S, et al. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis. 2016;39(1):93-106. doi:10.1007/s10545-015-9880-2. 3. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM. Peroxisomal disorders in neurology. J Neurol Sci. 1988;88:1-39. 4. Baes M, Van Veldhoven PP. Hepatic dysfunction in peroxisomal disorders. Biochim Biophys Acta. 2016;1863(5):956-970. doi:10.1016/j.bbamcr.2015.09.035. 5. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi:10.1186/s13023-015-0368-9. 6. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9259-3. 7. Smith JS, Aitchison JD. Peroxisomes take shape. Nat Rev Mol Cell Biol. 2013;14(12):803-817. doi:10.1038/nm3700. 8. Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008;5(8):456-468. doi:10.1038/ncpgasthep1179. 9. Bove KE, Heubi JE, Balistreri WF, Setchell KDR. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol. 2004;7(4):315-334. doi:10.1007/s10024-002-1201-8. 10. Setchell KDR, Heubi JE. Defects in bile acid biosynthesis–diagnosis and treatment. J Pediatr Gastroenterol Nutr. 2006;43(1):S17-S22. 11. Grayer J. Recognition of Zellweger syndrome in infancy. Adv Neonatal Care. 2005;5(1):5-13. doi:10.1016/j.adnc.2004.10.007. 12. Fischler B, Lamireau T. Cholestasis in the newborn and infant. Clin Res Hepatol Gastroenterol. 2014;38(3):263-267. doi:10.1016/j.clinre.2014.03.010. 13. Gonzales E, Gerhardt MF, Fabre M, et al. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology. 2009;137(4):1310-1320. doi:10.1053/j.gastro.2009.07.043.