Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in P...
Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report
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Publisher
England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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 with severe and fulminant sepsis, causing death during the neona...
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Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_0dbb7d4920374543a25b56ec43731bbd
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0dbb7d4920374543a25b56ec43731bbd
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-020-01175-y
