ArticleJIMD reports2021
Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 5 citations in OpenAlex.
- ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.Neurogenetics · 2026Review
- NRH, a potent NADMetabolism: clinical and experimental · 2025Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.JIMD reports · 2021Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.
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