U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 377

1.
Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian
Orphanet J Rare Dis. 2023; 18: 102. Published online 2023 May 2. doi: 10.1186/s13023-023-02673-x
Correction in:
Orphanet J Rare Dis. 2023; 18: 150.
PMCID:
PMC10186734
ArticlePDF–3.8M
2.
Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan
Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi
Int J Neonatal Screen. 2021 Sep; 7(3): 58. Published online 2021 Aug 25. doi: 10.3390/ijns7030058
PMCID:
PMC8395936
ArticlePDF–772K
3.
LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders
Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner
Metabolites. 2021 Jun; 11(6): 347. Published online 2021 May 29. doi: 10.3390/metabo11060347
PMCID:
PMC8226985
ArticlePDF–2.8M
4.
Extracerebral Biopsy in Lysosomal and Peroxisomal Disorders. Ultrastructural Findings
Chantai Ceuterick‐de Groote, Jean‐Jacques Martin
Brain Pathol. 1998 Jan; 8(1): 121–132. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.1998.tb00140.x
PMCID:
PMC8098575
SummaryPDF–257K
5.
Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis
James M. Powers, Hugo W. Moser
Brain Pathol. 1998 Jan; 8(1): 101–120. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.1998.tb00139.x
PMCID:
PMC8098283
SummaryPDF–356K
6.
Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity
Yannick Das, Daniëlle Swinkels, Myriam Baes
Int J Mol Sci. 2021 Apr; 22(8): 4101. Published online 2021 Apr 15. doi: 10.3390/ijms22084101
PMCID:
PMC8071455
ArticlePDF–13M
7.
Peroxisomal Disorders: A Review on Cerebellar Pathologies
Stephanie De Munter, Simon Verheijden, Luc Régal, Myriam Baes
Brain Pathol. 2015 Nov; 25(6): 663–678. Published online 2015 Aug 19. doi: 10.1111/bpa.12290
PMCID:
PMC8029412
ArticlePDF–474K
8.
Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders
Veronica Arora, Sunita Bijarnia-Mahay, Sudhisha Dubey, Renu Saxena
Mol Syndromol. 2020 Dec; 11(5-6): 309–314. Published online 2020 Sep 30. doi: 10.1159/000510480
PMCID:
PMC7802441
ArticlePDF–641K
9.
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders
Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska
PLoS One. 2020; 15(9): e0238796. Published online 2020 Sep 18. doi: 10.1371/journal.pone.0238796
PMCID:
PMC7500652
ArticlePDF–1019K
10.
Chronic Progressive Spastic Paraparesis: Think of Peroxisomal Disorders - A Case Report of X-Linked Adult Onset Adrenoleukodystrophy With an Update on The Latest Treatment Strategies
Hassan Kesserwani
Cureus. 2020 Aug; 12(8): e9626. Published online 2020 Aug 9. doi: 10.7759/cureus.9626
PMCID:
PMC7478922
ArticlePDF–547K
11.
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders
Yorrick R. J. Jaspers, Sacha Ferdinandusse, Inge M. E. Dijkstra, Rinse Willem Barendsen, Henk van Lenthe, Wim Kulik, Marc Engelen, Susan M. I. Goorden, Frédéric M. Vaz, Stephan Kemp
Front Cell Dev Biol. 2020; 8: 690. Published online 2020 Jul 29. doi: 10.3389/fcell.2020.00690
PMCID:
PMC7438929
ArticlePDF–1.3M
12.
SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders
Yunshan Zhang, Guiyun Cui, Yue Wang, Yi Gong, Yulan Wang
Int J Mol Med. 2019 Sep; 44(3): 995–1005. Published online 2019 Jun 20. doi: 10.3892/ijmm.2019.4250
PMCID:
PMC6657955
ArticlePDF–1.3M
13.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders
Katharina Herzog, Mia L. Pras-Raves, Sacha Ferdinandusse, Martin A. T. Vervaart, Angela C. M. Luyf, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, Frédéric M. Vaz
J Inherit Metab Dis. 2018; 41(3): 489–498. Published online 2017 Dec 5. doi: 10.1007/s10545-017-0114-7
PMCID:
PMC5959966
ArticlePDF–1.8M
14.
From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system
Fabian Dorninger, Sonja Forss-Petter, Johannes Berger
FEBS Lett. Author manuscript; available in PMC 2018 Mar 16.
Published in final edited form as: FEBS Lett. 2017 Sep; 591(18): 2761–2788. Published online 2017 Sep 7. doi: 10.1002/1873-3468.12788
PMCID:
PMC5856336
ArticlePDF–1.0M
15.
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Sacha Ferdinandusse, Merel S. Ebberink, Frédéric M. Vaz, Hans R. Waterham, Ronald J. A. Wanders
J Inherit Metab Dis. 2016; 39: 531–543. Published online 2016 Mar 4. doi: 10.1007/s10545-016-9922-4
PMCID:
PMC4920857
ArticlePDF–793K
16.
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters
Sohair Abd-El Mawgood Abd-Elmaksoud, Hala El-Bassyouni, Hanan Afifi, Manal Micheal Thomas, Alshaymaa Ahmed Ibrahim, Aliaa Shalaby, Tamer Ahmed Abdel Hamid, Nehal Abdel Hamid, Hany El-Ghobary
J Clin Diagn Res. 2015 Nov; 9(11): SC17–SC20. Published online 2015 Nov 1. doi: 10.7860/JCDR/2015/15629.6788
PMCID:
PMC4668497
ArticlePDF–111K
17.
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata
Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J. A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita
J Lipid Res. 2012 Apr; 53(4): 653–663. doi: 10.1194/jlr.M021204
PMCID:
PMC3307642
ArticlePDF–1.5M
18.
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders
J Cell Biol. 1995 Jul 1; 130(1): 51–65. doi: 10.1083/jcb.130.1.51
PMCID:
PMC2120514
SummaryPDF–3.4M
19.
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection
S Steinberg, S Katsanis, A Moser, G Cutting
J Med Genet. 2005 Jan; 42(1): 38–44. doi: 10.1136/jmg.2004.023556
PMCID:
PMC1735906
SummaryPDF–121K
20.
Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.
R J Wanders, C W van Roermund, M J van Wijland, R B Schutgens, J Heikoop, H van den Bosch, A W Schram, J M Tager
J Clin Invest. 1987 Dec; 80(6): 1778–1783. doi: 10.1172/JCI113271
PMCID:
PMC442453
SummaryPage BrowsePDF–1.1M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center