Zellweger spectrum disorders: clinical overview and management approach

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonata...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Klouwer, Femke C. C., Berendse, Kevin, Ferdinandusse, Sacha, Wanders, Ronald J. A., Engelen, Marc, Poll-The, Bwee Tien
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666198/
https://ncbi.nlm.nih.gov/pubmed/26627182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0368-9
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