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Significados de peroxisome biogenesis disorder em inglês

catalão
trastorn de l'espectre de zellweger
espanhol
trastorno del espectro de zellweger

Group of rare autosomal recessive genetic disorders.

Termos relacionados
trastorn de l'espectre de zellweger
português
síndrome de zellweger
espanhol
síndrome de zellweger
catalão
síndrome de zellweger

Congenital disorder of nervous system.

Termos relacionados
síndrome de zellweger
Sinônimos
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
russo
пероксисомная патология
catalão
malaltia peroxisomal
espanhol
enfermedad peroxisomal

Inherited metabolic disorder that involves peroxisome malfunction.

пероксисомная патология