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Article

[Clinical and molecular aspects of peroxisome-deficient disorders].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Suzuki Y, Shimozawa N, Orii T

Abstract excerpt

Peroxisome-deficient disorders including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) are characterized by the absence of peroxisomes associated with secondary multiple enzyme deficiencies and by a defect in the neuronal migration. Collaborative complementation studies revealed the presence of at least 9 genetic groups among these disorders. Clinical phenotypes...

Topics

Adrenoleukodystrophy
Amino Acid Sequence
Animals
CHO Cells
Cloning, Molecular
Cricetinae
Humans
Infant
Infant, Newborn
Membrane Proteins
Microbodies
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Peroxisomal Biogenesis Factor 2

Refsum Disease

Zellweger Syndrome

Source

Identifiers

PMID: 7692118

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7692118-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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