ArticleAdvances in experimental medicine and biology2020
Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
Article in Advances in experimental medicine and biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- The peroxisome: an update on mysteries 3.0.Histochemistry and cell biology · 2024Review
- Review
- The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023Review
- Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency.Frontiers in pediatrics · 2022Article
- Article
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Authors and funding
1 author.
Funding
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Abstract
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 extended the knowledge about these disorders. The aim of this review is to offer a large panorama on molecular basis, clinical presentation and treatment of ZSD, and to update the diagnosis strategy of these disorders in the era of next-generation sequencing (NGS).
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Registered trials
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