ReviewJournal of inherited metabolic disease1994
Peroxisomal disorders: a review.
Review in Journal of inherited metabolic disease, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed.
- Zellweger syndrome: A cause of neonatal hypotonia and seizures.Sudanese journal of paediatrics · 2011Article
- Genetic ablation of calcium-independent phospholipase A2gamma prevents obesity and insulin resistance during high fat feeding by mitochondrial uncoupling and increased adipocyte fatty acid oxidation.The Journal of biological chemistry · 2010Article
- Diffusion-weighted MR imaging in leukodystrophies.European radiology · 2005Review
- Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.Brain pathology (Zurich, Switzerland) · 1998Review
- Respiration and low cAMP-dependent protein kinase activity are required for high-level expression of the peroxisomal thiolase gene in Saccharomyces cerevisiae.Molecular & general genetics : MGG · 1996Article
- In situ heterogeneity of peroxisomal oxidase activities: an update.The Histochemical journal · 1996Review
- Major hyperpipecolataemia in a normal adult.Journal of inherited metabolic disease · 1996Article
- Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.Journal of inherited metabolic disease · 1995Article
- DNA diagnosis of X-linked adrenoleukodystrophy.Journal of inherited metabolic disease · 1995Review
- Assignment of the human peroxisomal palmitoyl-CoA oxidase gene to chromosome 17q23-qter by PCR technique.Journal of inherited metabolic disease · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Until recently peroxisomal disorders were considered to be extremely rare and the diagnostic procedures available for postanatal and prenatal diagnosis were not widely known. At present, 17 human disorders are linked to peroxisomal dysfunction. The clinical, biochemical and morphological peroxisome heterogeneity described in the different diseases illustrate that only combined analysis of all the different approaches will lead to a correct diagnosis and a coherent pathophysiological model to guide ongoing research. With the study of human peroxisomal disease, advances have been gained as to the function of the peroxisome in normal and pathological conditions. Genetic analysis of peroxisome biogenesis and research on peroxisomal targeting signals are now in progress. Peroxisomal disorders are usually classified according to the degree of biochemical impairment. In this paper, a tentative classification of peroxisomal disorders will be proposed, based on the degree of biochemical abnormalities combined with new data obtained on whether or not defective peroxisome assembly is involved: (1) disorders with peroxisome assembly deficiencies; (2) disorders with single enzyme deficiencies. The clinical onset and the major symptoms of the various disorders, and the recently discovered findings are discussed.
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.