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A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review

In this study, we report a male newborn with severe Zellweger spectrum disorder (ZSDs) presenting asphyxia, hypotonia, poor feeding, and dysmorphic facial features. Despite intensive supportive treatment, the boy’s condition deteriorated progressively. The patient’s diagnosis was made by delayed res...

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Détails bibliographiques
Publié dans:Transl Pediatr
Auteurs principaux: Lu, Pei, Ma, Li, Sun, Jingjing, Gong, Xiaohui, Cai, Cheng
Format: Artigo
Langue:Inglês
Publié: AME Publishing Company 2021
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7944177/
https://ncbi.nlm.nih.gov/pubmed/33708531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-20-167
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