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Article

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Advances in experimental medicine and biology - 1 Jan 2020

Cheillan David

Abstract excerpt

Zellweger syndrome disorders (ZSD) is the principal group of peroxisomal disorders characterized by a defect of peroxisome biogenesis due to mutations in one of the 13 PEX genes. The clinical spectrum is very large with a continuum from antenatal forms to adult presentation. Whereas biochemical profile in body fluids is classically used for their diagnosis, the revolution of high-throughput sequencing has...

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PMID: 33417208
DOI: 10.1007/978-3-030-60204-8_6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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