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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1989 1
1990 1
1993 1
1995 5
1996 3
1997 6
1998 3
1999 5
2000 3
2001 6
2002 3
2003 2
2004 5
2005 2
2008 1
2009 3
2010 3
2011 1
2012 4
2013 2
2014 1
2015 5
2016 3
2017 5
2018 5
2019 3
2020 4
2021 1
2022 4
2023 4
2024 2

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88 results

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Page 1
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.
The leukoencephalopathy is progressive, with or without peripheral nerve involvement, in patients with a prolonged course of the disease. MRI characteristics in the severe phenotype of rhizomelic chondrodysplasia punctata include supratentorial white matter abnormalities, …
The leukoencephalopathy is progressive, with or without peripheral nerve involvement, in patients with a prolonged course of the dise …
Liver Transplantation for Zellweger Syndrome.
Menon J, Shanmugam N, Vij M, Rammohan A, Rela M. Menon J, et al. Indian J Pediatr. 2024 May;91(5):507-509. doi: 10.1007/s12098-023-04937-7. Epub 2023 Dec 20. Indian J Pediatr. 2024. PMID: 38117438
Therefore, in a group of carefully selected patients with Zellweger syndrome, a liver transplantation can be offered successfully with an excellent prognosis....
Therefore, in a group of carefully selected patients with Zellweger syndrome, a liver transplantation can be offered successfully with an ex …
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F. Depreter M, et al. Microsc Res Tech. 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. Microsc Res Tech. 2003. PMID: 12740827 Review.
After a summary of the historical names and categories, each having distinct symptoms and prognosis, microscopic pathology is reviewed in detail. Data from the literature are added to experience in the authors' laboratory with 167 liver biopsy and autopsy samples from pero …
After a summary of the historical names and categories, each having distinct symptoms and prognosis, microscopic pathology is reviewe …
Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.
Judy RM, Sheedy CJ, Gardner BM. Judy RM, et al. Cells. 2022 Jun 29;11(13):2067. doi: 10.3390/cells11132067. Cells. 2022. PMID: 35805150 Free PMC article. Review.
We also consider how advances in cryo-EM, computational structure prediction, and mechanisms of related ATPases are improving our understanding of how Pex1/Pex6 converts ATP hydrolysis into mechanical force. ...
We also consider how advances in cryo-EM, computational structure prediction, and mechanisms of related ATPases are improving our und …
Child neurology: Zellweger syndrome.
Lee PR, Raymond GV. Lee PR, et al. Neurology. 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. Neurology. 2013. PMID: 23671347 Free PMC article. Review.
Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G. Zhu Z, et al. Orphanet J Rare Dis. 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x. Orphanet J Rare Dis. 2023. PMID: 37189159 Free PMC article.
CONCLUSIONS: Our study demonstrated metabolic differences between healthy controls, neurological patients, and peroxisomal disorder (X-linked adrenoleukodystrophy and Zellweger syndrome) patients, refined classification models and showed the potential utility of hexacosanoylcarni …
CONCLUSIONS: Our study demonstrated metabolic differences between healthy controls, neurological patients, and peroxisomal disorder (X-linke …
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.
Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in understanding individual prognosis and treatment effectiveness. The purpose of this study is to conduct a scoping review and meta-anal …
Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in u …
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS. Waterham HR, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Biochim Biophys Acta. 2012. PMID: 22871920 Free article. Review.
Thirteen of these genes are associated with ZSS disorders. The genetic heterogeneity among PBDs and the inability to predict from the biochemical and clinical phenotype of a patient with ZSS which of the currently known 13 PEX genes is defective, has fostered the developme …
Thirteen of these genes are associated with ZSS disorders. The genetic heterogeneity among PBDs and the inability to predict from the …
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy. Computational predictions highlighted the involvement of the Ar …
Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearin …
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW. Moser HW. Mol Genet Metab. 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. Mol Genet Metab. 1999. PMID: 10527683 Free article. Review.
Definition of the molecular defects is of great value for genetic counseling and may be of aid in establishing prognosis....
Definition of the molecular defects is of great value for genetic counseling and may be of aid in establishing prognosis....
88 results