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

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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第一作者： Laura,Lucaccioni

第一单位： Neonatal Intensive Care Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy.

作者： Laura,Lucaccioni ^[1] ; Beatrice,Righi ^[2] ; Greta Miriam,Cingolani ^[2] ; Licia,Lugli ^[1] ; Elisa,Della Casa ^[1] ; Francesco,Torcetta ^[1] ; Lorenzo,Iughetti ^[3] ; Alberto,Berardi ^[1]

作者单位： Neonatal Intensive Care Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy. ^[1] Post Graduate School of Paediatrics, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy. ^[2] Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy. iughetti.lorenzo@unimore.it. ^[3]

关键词 Innate immunity Peroxisome biogenesis disorders Very long chain fatty acids Zellweger syndrome

主题词致命性结局(Fatal Outcome);基因表达(Gene Expression);革兰氏阴性菌感染(Gram-Negative Bacterial Infections);人类(Humans);免疫, 先天(Immunity, Innate);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变(Mutation);过氧化物酶体类(Peroxisomes);脓毒症(Sepsis);Zellweger综合征(Zellweger Syndrome)

DOI 10.1186/s12881-020-01175-y

PMID 33213396

发布时间 2021-01-08

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BMC medical genetics

BMC medical genetics

2020年21卷1期

229页

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