ReviewJournal of inherited metabolic disease1991
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.
Review in Journal of inherited metabolic disease, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 69 citations in OpenAlex.
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Visualisation of peroxisomes: a journey through seven decades.Histochemistry and cell biology · 2026Review
- The biogenesis protein PEX14 is an optimal marker for the identification and localization of peroxisomes in different cell types, tissues, and species in morphological studies.Histochemistry and cell biology · 2013Article
- Zellweger syndrome: A cause of neonatal hypotonia and seizures.Sudanese journal of paediatrics · 2011Article
- Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.European journal of pediatrics · 1996Article
- Contributions of the immunogold technique to investigation of the biology of peroxisomes.Histochemistry and cell biology · 1996Review
- In situ heterogeneity of peroxisomal oxidase activities: an update.The Histochemical journal · 1996Review
- Neuropathology of peroxisomal diseases.Journal of inherited metabolic disease · 1995Review
- Clinical approach to inherited peroxisomal disorders.Journal of inherited metabolic disease · 1995Review
- Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.Journal of inherited metabolic disease · 1995Article
- Practical guide for morphometry of human peroxisomes on electron micrographs.Journal of inherited metabolic disease · 1995Review
- Diagnostic work-up of a peroxisomal patient.Journal of inherited metabolic disease · 1995Review
- Secondary alterations of human hepatocellular peroxisomes.Journal of inherited metabolic disease · 1995Review
- Liver and chorion cytochemistry.Journal of inherited metabolic disease · 1995Article
- Peroxisomal disorders: a review.Journal of inherited metabolic disease · 1994Review
- Catalase-negative peroxisomes in human embryonic liver.Cell and tissue research · 1993Article
- Establishment of a normal range of morphometric values for peroxisomes in paediatric liver.Virchows Archiv. A, Pathological anatomy and histopathology · 1993Article
- Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome.Journal of inherited metabolic disease · 1993Article
- Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.Journal of inherited metabolic disease · 1992Article
- Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.Virchows Archiv. A, Pathological anatomy and histopathology · 1991Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diagnostic and pathogenetic investigations of peroxisomal disorders should include the study of the macroscopic and microscopic pathology of the liver, in addition to careful clinical observations, skeletal X-ray and brain CT scan, assays of very long-chain fatty acids and bile acid intermediates, and selected enzyme activities. This review of the literature also contains novel observations about the following syndromes: cerebro-hepato-renal (Zellweger) syndrome, X-linked and neonatal adrenoleukodystrophies (ALD, NALD), NALD-like syndromes, infantile phytanic acid storage, classical Refsum disease, rhizomelic and other forms of chondrodysplasia punctata (XD, XR, AR), hyperpipecolic acidaemia, primary hyperoxaluria I, pseudo-Zellweger and Zellweger-like syndromes, and single enzyme deficiencies. Microscopic data include catalase staining and morphometry of peroxisomes, immunolocalization of beta-oxidation enzymes, detection of trilamellar, polarizing inclusions in PAS-positive macrophages, fibrosis and iron storage. Peroxisomal enlargement appears to be related to functional deficit in beta-oxidation disorders as well as in rhizomelic chondrodysplasia punctata. Because normal peroxisomal localization of active beta-oxidation enzymes can accompany a C26 beta-oxidation deficit, other mechanisms such as impaired transport of metabolites should be investigated. 'Ghost'-like organelles are shown in the liver of an infantile Refsum patient and in an NALD-like case; immuno-gold labelling of membrane proteins did not reveal ghosts in Zellweger livers.
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