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- W2067697449 abstract "At least 29 proteins are required for assembly of the peroxisome, a single-membrane organelle responsible for many metabolic processes. A defect in any of these proteins affects the numerous biochemical functions of the cell. Many genetic disorders are associated with peroxisome defects. Zellweger syndrome, a rare autosomal recessive disorder, is one of the disorders that result from a deficiency in the assembly of the peroxisome. Impaired metabolism results in the accumulation of toxic metabolites and damages developing neural cells. This article provides an overview of peroxisome function and its effect on central nervous system development. It highlights the presentation, clinical features, and nursing care of infants with Zellweger syndrome. A meticulous systematic physical assessment enhances early recognition of the physical features of this disorder. Although magnetic resonance imaging detects polymicrogyria, a manifestation of abnormal neuronal migration that is often associated with Zellweger syndrome, the diagnosis is confirmed biochemically. An emphasis on family support through genetic counseling and the integration of palliative resources to enhance quality of life for infants and families with this lethal condition is provided." @default.
- W2067697449 created "2016-06-24" @default.
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- W2067697449 date "2005-02-01" @default.
- W2067697449 modified "2023-10-03" @default.
- W2067697449 title "RECOGNITION OF ZELLWEGER SYNDROME IN INFANCY" @default.
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- W2067697449 doi "https://doi.org/10.1016/j.adnc.2004.10.007" @default.
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