| Title |
An update on molecular genetics of Alkaptonuria (AKU)
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, July 2011
|
| DOI | 10.1007/s10545-011-9363-z |
| Pubmed ID | |
| Authors |
Andrea Zatkova |
| Abstract |
Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in the HGD gene, which maps to the human chromosome 3q21-q23. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000. In this work, we summarize the genetic aspects of AKU in general and the distribution of all known disease-causing mutations reported so far. We focus on special features of AKU in Slovakia, which is one of the countries with an increased incidence of this rare metabolic disorder. |
Mendeley readers
The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 1% |
| Luxembourg | 1 | 1% |
| Unknown | 70 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 13 | 18% |
| Researcher | 11 | 15% |
| Student > Ph. D. Student | 9 | 13% |
| Student > Master | 5 | 7% |
| Student > Postgraduate | 3 | 4% |
| Other | 9 | 13% |
| Unknown | 22 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 24% |
| Biochemistry, Genetics and Molecular Biology | 11 | 15% |
| Agricultural and Biological Sciences | 9 | 13% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
| Computer Science | 2 | 3% |
| Other | 6 | 8% |
| Unknown | 25 | 35% |
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 29 September 2023.
All research outputs
#7,451,942
of 22,782,096 outputs
Outputs from Journal of Inherited Metabolic Disease
#684
of 1,841 outputs
Outputs of similar age
#41,514
of 115,800 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#4
of 11 outputs
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