| Title |
Screening for Menkes disease using the urine HVA/VMA ratio
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, January 2005
|
| DOI | 10.1007/s10545-005-5083-6 |
| Pubmed ID | |
| Authors |
M. Matsuo, R. Tasaki, H. Kodama, Y. Hamasaki |
| Abstract |
Menkes disease is a disorder of copper transport that results in early death. Early therapy with parenteral copper-histidine has been shown to markedly improve outcomes. However, early diagnosis is difficult because patients are asymptomatic in early infancy. In Menkes disease, impaired activity of dopamine beta-hydroxylase, a copper-dependent enzyme, leads to increased urine ratios of homovanillic acid/vanillylmandelic acid (HVA/VMA). Urine HVA/VMA ratios ranged from 4.1 to 69.7 among 15 patients with Menkes disease, whereas only 0.18% of controls had ratios greater than 4.0. Thus, the urine HVA/VMA ratio is a useful screening method for Menkes disease. |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 5% |
| Unknown | 19 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 5 | 25% |
| Other | 3 | 15% |
| Student > Ph. D. Student | 3 | 15% |
| Researcher | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Other | 4 | 20% |
| Unknown | 1 | 5% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 45% |
| Chemistry | 4 | 20% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Agricultural and Biological Sciences | 2 | 10% |
| Unspecified | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 2 | 10% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 November 2016.
All research outputs
#8,880,246
of 26,017,215 outputs
Outputs from Journal of Inherited Metabolic Disease
#842
of 2,049 outputs
Outputs of similar age
#40,504
of 155,260 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#7
of 9 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,049 research outputs from this source. They receive a mean Attention Score of 4.9. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.