Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report

BACKGROUND: Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We report on an unusual presentation of Zellweger syndrome manifesting in a newborn wi...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Lucaccioni, Laura, Righi, Beatrice, Cingolani, Greta Miriam, Lugli, Licia, Della Casa, Elisa, Torcetta, Francesco, Iughetti, Lorenzo, Berardi, Alberto
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7678176/
https://ncbi.nlm.nih.gov/pubmed/33213396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01175-y
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