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Article

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

BMC medical genetics - 19 Nov 2020

Lucaccioni Laura, Righi Beatrice, Cingolani Greta Miriam, Lugli Licia, Della Casa Elisa, Torcetta Francesco, Iughetti Lorenzo, Berardi Alberto

Abstract excerpt

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 with severe and fulminant sepsis, causing death during the neonatal period. CASE PRESENTATION: A term male Caucasian...

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Identifiers

PMID: 33213396
DOI: 10.1186/s12881-020-01175-y
PMCID: PMC7678176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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