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1995 1
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2018 2
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23 results

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Page 1
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.
Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, Braverman NE. Bose M, et al. Cells. 2022 Jun 10;11(12):1891. doi: 10.3390/cells11121891. Cells. 2022. PMID: 35741019 Free PMC article. Review.
The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if characterization of clinical findings can predict severity in ZSD. Our PubMed search for articles describing severity, clinical find …
The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if …
Two siblings with PEX11B-related peroxisome biogenesis disorder.
Khoddam S, Kamal N, Shiri A, Jafari Khamirani H, Manoochehri J, Dianatpour M, Tabei SMB, Dastgheib SA. Khoddam S, et al. Eur J Med Genet. 2024 Apr;68:104928. doi: 10.1016/j.ejmg.2024.104928. Epub 2024 Feb 28. Eur J Med Genet. 2024. PMID: 38423277 Free article.
Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inheritance called peroxisome biogenesis disorder 14B (MIM: 614920). Here, we report two affected siblings with a novel variant (NM_003846: c.11G > A, p. ...This pa …
Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inheritance called peroxisome biogenes …
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL. Lee S, et al. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. JAMA Netw Open. 2020. PMID: 32003821 Free PMC article.
MAIN OUTCOMES AND MEASURES: The prevalence of X-ALD in North Carolina and the positive predictive value and false-positive rate for the first-tier assay were determined. ...Of these 12 infants, 8 were confirmed with a genetic disorder: 3 male infants with X-ALD, 3 X-ALD-he …
MAIN OUTCOMES AND MEASURES: The prevalence of X-ALD in North Carolina and the positive predictive value and false-positive rate for t …
Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome.
Nasrallah F, Zidi W, Feki M, Kacem S, Tebib N, Kaabachi N. Nasrallah F, et al. Pediatr Neonatol. 2017 Dec;58(6):484-489. doi: 10.1016/j.pedneo.2016.08.011. Epub 2017 Feb 17. Pediatr Neonatol. 2017. PMID: 28330580 Free article.
BACKGROUND: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. ...Severe neurological syndrome, polymalformative features, and hepatodigestive signs were observed in 100%, 67.9%, and 32% of pat …
BACKGROUND: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes famil …
Development and validation of a severity scoring system for Zellweger spectrum disorders.
Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT. Klouwer FCC, et al. Clin Genet. 2018 Mar;93(3):613-621. doi: 10.1111/cge.13130. Epub 2017 Dec 1. Clin Genet. 2018. PMID: 28857144
The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. ...We developed a severity scoring system based on the 14 organs that typically can be affected …
The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patien …
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. Wangler MF, et al. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419819 Free PMC article.
Untargeted metabolomic profiling of these samples revealed elevations in pipecolic acid and long-chain lysophosphatidylcholines, as well as an unanticipated reduction in multiple sphingomyelin species. These sphingomyelin reductions observed were consistent across the PBD- …
Untargeted metabolomic profiling of these samples revealed elevations in pipecolic acid and long-chain lysophosphatidylcholines, as well as …
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ. Warren DS, et al. Hum Mutat. 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10862081
To quantitate the effects of the PEX10 mutations identified here and elsewhere we employed a functional complementation assay. Surprisingly, we observed that nonsense and frameshift mutations predicted to delete the C-terminal 2/3 (R125X) or 1/3 (c.704insA) of the p …
To quantitate the effects of the PEX10 mutations identified here and elsewhere we employed a functional complementation assay. Surprisingly, …
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J, Schmohl F, Waterham HR, Wanders RJ. Gootjes J, et al. Eur J Hum Genet. 2004 Feb;12(2):115-20. doi: 10.1038/sj.ejhg.5201090. Eur J Hum Genet. 2004. PMID: 14571262
Four of the patients have mutations that disrupt the translation frame and/or create an early termination codon in the PEX12 open reading frame predicted to result in truncated protein products, lacking at least the COOH-terminal zinc-binding domain. ...
Four of the patients have mutations that disrupt the translation frame and/or create an early termination codon in the PEX12 open reading fr …
Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
Imamura A, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Fujiki Y, Orii T, Osumi T, Kondo N. Imamura A, et al. Brain Dev. 2000 Jan;22(1):8-12. doi: 10.1016/s0387-7604(99)00072-8. Brain Dev. 2000. PMID: 10761827
These results indicate that the biochemical functions of peroxisome are also restored by incubation at 30 degrees C in the mild and ts phenotype of PBDs, and the results will aid to predict the severity and the prognosis of affected children....
These results indicate that the biochemical functions of peroxisome are also restored by incubation at 30 degrees C in the mild and ts pheno …
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Ebberink MS, et al. Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833. Hum Mutat. 2009. PMID: 18712838
Genetic complementation testing with over 500 different fibroblast cell lines from patients diagnosed with a peroxisome biogenesis disorder (PBD) identified 11 cell lines with a defect in PEX5. ...The location of the different mutations within the PEX5 amino …
Genetic complementation testing with over 500 different fibroblast cell lines from patients diagnosed with a peroxisome biogenesis …
23 results