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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao https://doi.org/10.1...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
https://doi.org/10.1007/978-1-...
Part of book or chapter of book . 2003 . Peer-reviewed
License: Springer TDM
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Mouse Models and Genetic Modifiers in X-Linked Adrenoleukodystrophy

Authors: Ann K, Heinzer; Martina C, McGuinness; Jyh-Feng, Lu; O Colin, Stine; Heming, Wei; Mark, Van der Vlies; Gao-Xiang, Dong; +3 Authors

Mouse Models and Genetic Modifiers in X-Linked Adrenoleukodystrophy

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder that affects 1 in 35000 males and is marked by neurodegeneration, adrenal insufficiency and infertility. All characteristics are not always present in every X-ALD patient and the rate of progression varies. X-ALD has a variety of phenotypes, the two major phenotypes are cerebral X-ALD (CALD) and adrenomyeloneuropathy (AMN)(Moser 2000). The Other patients only have adrenal insufficiency, or rarely, remain asymptomatic. As the nature of X-ALD is progressive, these adrenal and asymptomatic patients often develop nervous system involvement as they age. CALD most commonly presents in childhood (mean age of onset, 7.2 ±1.7 years) but can also strike adolescents and adults. There are focal sites of demyelination of the cerebral white matter associated with perivascular inflammation of the affected site. This inflammatory demyelination is rapidly progressive over the course of a few years and usually ends in early death. AMN presents in adulthood (mean age of onset, 28 ± 9 years) as a peripheral myelopathy with spinal cord involvement usually with no brain disease. There is a lack of inflammation at these sites and this disease progresses much more slowly than the cerebral form. A significant fraction of AMN patients eventually develop brain disease. Adrenal insufficiency is often, but not always, present in both cerebral and AMN patients.

Keywords

Male, Mice, Knockout, Fatty Acids, ATP Binding Cassette Transporter, Subfamily D, Member 1, Mitochondria, Pedigree, Disease Models, Animal, Mice, Phenotype, Mutation, Animals, Humans, ATP-Binding Cassette Transporters, Female, Adrenoleukodystrophy

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
19
Average
Top 10%
Average
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