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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
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...
Autores principales: | Lucaccioni, Laura, Righi, Beatrice, Cingolani, Greta Miriam, Lugli, Licia, Della Casa, Elisa, Torcetta, Francesco, Iughetti, Lorenzo, Berardi, Alberto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678176/ https://www.ncbi.nlm.nih.gov/pubmed/33213396 http://dx.doi.org/10.1186/s12881-020-01175-y |
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