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Significats de peroxisome biogenesis disorder en anglès
Group of rare autosomal recessive genetic disorders.
Termes relacionats
Congenital disorder of nervous system.
Termes relacionats
Sinònims
Examples for "zss"
Examples for "zss"
1
It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients.
2
The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites.
3
In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis.
4
Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies.
5
Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival.
1
This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.
Inherited metabolic disorder that involves peroxisome malfunction.
Translations for peroxisome biogenesis disorder
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