ArticleJournal of inherited metabolic disease1998
Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.
Article in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 17 citations in OpenAlex.
- Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study.Annals of medicine and surgery (2012) · 2024Article
- Non-nucleoside reverse transcriptase inhibitors efavirenz and nevirapine inhibit cytochrome C oxidase in mouse brain regions.Neurochemical research · 2011Article
- Diagnosis and treatment of childhood mitochondrial diseases.Current neurology and neuroscience reports · 2001Review
- Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.AJNR. American journal of neuroradiology · 2000Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome-c oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.
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Registered trials
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