ArticleJournal of inherited metabolic disease1994
Chondrodysplasia punctata with a mild clinical course.
Article 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 3 papers.
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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
3 citing papers in PubMed, 20 citations in OpenAlex.
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.Biochimica et biophysica acta · 2015Article
- Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.American journal of human genetics · 2002Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems. De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi-Hünermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP-AT.
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