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Significats de peroxisome biogenesis disorders-zellweger spectrum disorders en anglès

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

Group of rare autosomal recessive genetic disorders.

      Termes relacionats
      trastorn de l'espectre de zellweger
      Sinònims
      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 disorders-zellweger spectrum disorders