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Cholic acid therapy in Zellweger spectrum disorders.
Berendse K, Klouwer FC, Koot BG, Kemper EM, Ferdinandusse S, Koelfat KV, Lenicek M, Schaap FG, Waterham HR, Vaz FM, Engelen M, Jansen PL, Wanders RJ, Poll-The BT. Berendse K, et al. J Inherit Metab Dis. 2016 Nov;39(6):859-868. doi: 10.1007/s10545-016-9962-9. Epub 2016 Jul 28. J Inherit Metab Dis. 2016. PMID: 27469511 Free PMC article.
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinical abnormalities in patien …
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by aut …
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.
Zeynelabidin S, Klouwer FCC, Meijers JCM, Suijker MH, Engelen M, Poll-The BT, van Ommen CH. Zeynelabidin S, et al. J Inherit Metab Dis. 2018 Mar;41(2):249-255. doi: 10.1007/s10545-017-0113-8. Epub 2017 Nov 14. J Inherit Metab Dis. 2018. PMID: 29139025 Free PMC article.
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. ...
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in mu …
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N. Cheung A, et al. Neurogenetics. 2022 Apr;23(2):115-127. doi: 10.1007/s10048-022-00684-7. Epub 2022 Feb 2. Neurogenetics. 2022. PMID: 35106698
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. ...This study further characterizes the phenotype of PEX16 defects b …
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caus …
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Klouwer FCC, Koot BGP, Berendse K, Kemper EM, Ferdinandusse S, Koelfat KVK, Lenicek M, Vaz FM, Engelen M, Jansen PLM, Wanders RJA, Waterham HR, Schaap FG, Poll-The BT. Klouwer FCC, et al. J Inherit Metab Dis. 2019 Mar;42(2):303-312. doi: 10.1002/jimd.12042. Epub 2019 Feb 21. J Inherit Metab Dis. 2019. PMID: 30793331
INTRODUCTION: Currently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabolic disorders characterised by a deficiency of functional peroxisomes. ...
INTRODUCTION: Currently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabol …
Low bone mineral density is a common feature of Zellweger spectrum disorders.
Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Rush ET, et al. Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24. Mol Genet Metab. 2016. PMID: 26643206
Patients with Zellweger Spectrum Disorders (ZSDs) have impaired peroxisome biogenesis and severe, multisystem disease. ...
Patients with Zellweger Spectrum Disorders (ZSDs) have impaired peroxisome biogenesis and severe, multisystem disease. …
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.
Heubi JE, Bove KE, Setchell KDR. Heubi JE, et al. J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):321-326. doi: 10.1097/MPG.0000000000001657. J Pediatr Gastroenterol Nutr. 2017. PMID: 28644367 Free PMC article. Clinical Trial.
OBJECTIVES: Patients with bile acid synthesis disorders (BASDs) due to single enzyme defects (SEDs) or Zellweger spectrum disorders (ZSDs) accumulate hepatotoxic atypical bile acids resulting in potentially fatal progressive liver disease. ...
OBJECTIVES: Patients with bile acid synthesis disorders (BASDs) due to single enzyme defects (SEDs) or Zellweger spectrum d …
Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.
Heubi JE, Setchell KDR. Heubi JE, et al. J Pediatr Gastroenterol Nutr. 2020 Apr;70(4):423-429. doi: 10.1097/MPG.0000000000002618. J Pediatr Gastroenterol Nutr. 2020. PMID: 31899729 Clinical Trial.
RESULTS: Of 53 total patients (single enzyme defects, n = 41; Zellweger spectrum disorders, n = 12), 22 (42%) were treatment-naive, and 31 (58%) were on cholic acid from a previous study. ...
RESULTS: Of 53 total patients (single enzyme defects, n = 41; Zellweger spectrum disorders, n = 12), 22 (42%) were trea …