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Значения термина peroxisome biogenesis disorder spectrum на английском

каталонский
trastorn de l'espectre de zellweger
испанский
trastorno del espectro de zellweger

Group of rare autosomal recessive genetic disorders.

Похожие термины
trastorn de l'espectre de zellweger
Синонимы
Examples for "zss"
Examples for "zss"
1
It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients.
Pubmed
2
The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites.
Pubmed
3
In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis.
Pubmed
4
Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies.
Pubmed
5
Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival.
Pubmed
1
This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.
Pubmed
Translations for peroxisome biogenesis disorder spectrum