Zellweger Syndrome: A Case Report

Zellweger Syndrome: A Case Report

Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofaci...

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Bibliographic Details
Main Authors: Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar
Format: Article
Language:English
Published: Nepal Medical Association 2024-02-01
Series:Journal of Nepal Medical Association
Subjects:
case reports
mutation
neonate
Zellweger syndrome
Online Access:https://jnma.com.np/jnma/index.php/jnma/article/view/8467

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https://jnma.com.np/jnma/index.php/jnma/article/view/8467

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