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Article

Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.

Clinical pediatrics - 1 Aug 1990

Pietrzyk J J, Turowska-Heydel D, Klimek M, Kaczmarski F, Kaluza J

Abstract excerpt

The authors present a report on two sibling with a nearly identical phenotype mimicking peroxisomal disorder but with totally discordant biochemical findings. In an attempt to confirm the diagnosis of a peroxisomal disorder, plasma levels of very long chain fatty acids (VLCFA) and phytanic acid were determined. In addition, fibroblasts profile of VLCFA and plasmalogen levels were evaluated for Case 2....

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Identifiers

PMID: 2208910
DOI: 10.1177/000992289002900814

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.PMID 2208910Read ↗

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Zellweger syndrome and associated phenotypes.Semantic proximity Read ↗

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[Zellweger syndrome. Reports on two new cases].Semantic proximity Read ↗

[Hereditary peroxisomal diseases].Semantic proximity Read ↗

[Biochemical genetics of peroxisomal disorders].Semantic proximity Read ↗

Peroxisomal Disorders: A ReviewSemantic proximity Read ↗

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