ArticleScientific reports2016
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 15 citations in OpenAlex.
- Substrate and standard evaluation for correlative elemental mapping of biological samples by X-ray fluorescence microscopy and laser ablation ICP-MS.Journal of analytical atomic spectrometry · 2026Article
- Article
- Renal Cell Carcinoma and Hepatocellular Carcinoma in a Patient with Wilson's Disease.Internal medicine (Tokyo, Japan) · 2024Article
- Quantitative imaging approaches to understanding biological processing of metal ions.Current opinion in chemical biology · 2022Review
- Copper-histidine therapy in an infant with novel splice-site variant in theBMJ case reports · 2022Review
- Review
- Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.Case reports in pediatrics · 2021Article
- Article
- Customisable X-ray fluorescence photodetector with submicron sensitivity using a ring array of silicon p-i-n diodes.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copper (Cu) is an indispensable metal for normal development and function of humans, especially in central nervous system (CNS). However, its redox activity requires accurate Cu transport system. ATP7A, a main Cu(2+) transporting-ATPase, is necessary to efflux Cu across the plasma membrane and synthesize cuproenzymes. Menkes disease (MD) is caused by mutations in ATP7A gene. Clinically, MD is Cu deficiency syndrome and is treated with Cu-histidine injections soon after definite diagnosis. But outcome of the most remains poor. To estimate the standard therapy, Cu distribution in the treated classic MD patients is analyzed by synchrotron-generated X-ray fluorescence technique (SR-XRF), which identifies and quantifies an individual atom up to at subcellular level of resolution with wide detection area. SR-XRF analysis newly reveals that Cu exists in spinal cord parenchyma and flows out via venous and lymph systems. By systemic analysis, excess Cu is detected in the proximal tubular cells of the kidney, the mucosal epithelial cells of the intestine, and the lymph and venous systems. The current study suggests that the standard therapy supply almost enough Cu for patient tissues. But given Cu passes through the tissues to venous and lymph systems, or accumulate in the cells responsible for Cu absorption.
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