Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome
Author:
Publisher
Briefland
Subject
Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing
2. Peroxisome biogenesis disorders: Molecular basis for impaired peroxisomal membrane assembly
3. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
4. Zellweger syndrome and secondary mitochondrial myopathy
5. Zellweger spectrum disorders: clinical overview and management approach
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1. Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience;Pediatric Pulmonology;2019-05-21
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