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196 results

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Page 1
The physiological functions of human peroxisomes.
Wanders RJA, Baes M, Ribeiro D, Ferdinandusse S, Waterham HR. Wanders RJA, et al. Physiol Rev. 2023 Jan 1;103(1):957-1024. doi: 10.1152/physrev.00051.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35951481 Free article. Review.
The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases caused by an impairment in one or more peroxisomal functions. Among others these include the Zellweger spectrum disorders, X-linked adrenoleuk …
The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases caused by an impairment …
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities …
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders …
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Raina R, et al. Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6. Am J Kidney Dis. 2021. PMID: 33418012 Review.
Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus potentially being life threatening. ...This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidn …
Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus …
Cholbam and Zellweger spectrum disorders: treatment implementation and management.
Anderson JN, Ammous Z, Eroglu Y, Hernandez E, Heubi J, Himes R, Palle S. Anderson JN, et al. Orphanet J Rare Dis. 2021 Sep 14;16(1):388. doi: 10.1186/s13023-021-01940-z. Orphanet J Rare Dis. 2021. PMID: 34521419 Free PMC article. Review.
BACKGROUND: Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning. ...Becau …
BACKGROUND: Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited di …
Peroxisome Biogenesis Disorders.
Honsho M, Okumoto K, Tamura S, Fujiki Y. Honsho M, et al. Adv Exp Med Biol. 2020;1299:45-54. doi: 10.1007/978-3-030-60204-8_4. Adv Exp Med Biol. 2020. PMID: 33417206 Review.
Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of peroxisome, causes peroxisome biogenesis disorders (PBDs). Fourteen complementation groups of PBDs are found, and their complementing genes termed …
Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of peroxisome, c …
Zellweger spectrum disorders: clinical overview and management approach.
Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT. Klouwer FC, et al. Orphanet J Rare Dis. 2015 Dec 1;10:151. doi: 10.1186/s13023-015-0368-9. Orphanet J Rare Dis. 2015. PMID: 26627182 Free PMC article. Review.
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into …
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders cau …
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M. Poll-The BT, et al. Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422205 Review.
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia punctata spectrum, as well as some single enzyme defects of peroxisomal beta-oxidation. The authors present information on the clinical …
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia pun …
Peroxisomal leukodystrophy.
Engelen M. Engelen M. Handb Clin Neurol. 2024;204:139-145. doi: 10.1016/B978-0-323-99209-1.00021-1. Handb Clin Neurol. 2024. PMID: 39322376 Review.
Peroxisomal disorders can be classified as single-enzyme deficiencies or peroxisomal biogenesis disorders (characterized by multiple peroxisomal enzyme deficiencies or complete absence of peroxisomes). Most peroxisomal disorders give rise to complex multisyst …
Peroxisomal disorders can be classified as single-enzyme deficiencies or peroxisomal biogenesis disorders (characterized by mu …
Peroxisomal disorders.
Raymond GV. Raymond GV. Curr Opin Pediatr. 1999 Dec;11(6):572-6. doi: 10.1097/00008480-199912000-00017. Curr Opin Pediatr. 1999. PMID: 10590918 Review.
There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis. Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrody …
There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well a …
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Yergeau C, Coussa RG, Antaki F, Argyriou C, Koenekoop RK, Braverman NE. Yergeau C, et al. Ophthalmology. 2023 Dec;130(12):1313-1326. doi: 10.1016/j.ophtha.2023.07.026. Epub 2023 Aug 2. Ophthalmology. 2023. PMID: 37541626 Review.
PURPOSE: Individuals with Zellweger spectrum disorder (ZSD) manifest a spectrum of clinical phenotypes but almost all have retinal degeneration leading to blindness. ...RESULTS: Visual acuity was worse at younger ages in those with severe disease …
PURPOSE: Individuals with Zellweger spectrum disorder (ZSD) manifest a spectrum of clinical phenotypes but almos …
196 results