| Title |
A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, July 2004
|
| DOI | 10.1007/s10545-005-0473-3 |
| Pubmed ID | |
| Authors |
Y. H. Gu, H. Kodama, K. Shiga, S. Nakata, Y. Yanagawa, H. Ozawa |
| Abstract |
Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of copper can prevent the neurological disturbances and lead to a better outcome. In the present study, a survey on MNK in Japan was performed. There were in total 53 live-born Japanese patients with MNK collected from 1990 to 2003, including two females. The incidence of live-born MNK patients between 1992 and 2002 was 2.8 per million live births (95% confidence interval (CI): 1.8 to 3.7), 4.9 per million male live births (95% CI: 3.2 to 6.6). One-third of the patients were born before 37 weeks or weighing less than 2500 g. Seventeen per cent were born both before 37 gestational weeks and weighing less than 2500 g. These proportions were higher than those in Japanese live-birth babies according to a nationwide estimate. The hair on these Japanese patients appeared not only as white or grey but also brown and blond. We also found that many signs had been noted before the patient was brought to a hospital with typical symptoms. These signs may be a clue to early diagnosis of MNK. |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 13 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 2 | 15% |
| Researcher | 2 | 15% |
| Student > Ph. D. Student | 2 | 15% |
| Other | 1 | 8% |
| Student > Doctoral Student | 1 | 8% |
| Other | 2 | 15% |
| Unknown | 3 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 4 | 31% |
| Medicine and Dentistry | 3 | 23% |
| Nursing and Health Professions | 1 | 8% |
| Biochemistry, Genetics and Molecular Biology | 1 | 8% |
| Unknown | 4 | 31% |
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
#7,453,126
of 22,785,242 outputs
Outputs from Journal of Inherited Metabolic Disease
#684
of 1,841 outputs
Outputs of similar age
#18,633
of 53,976 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#3
of 8 outputs
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So far Altmetric has tracked 1,841 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
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