| Title |
Thiamine-responsive megaloblastic anemia syndrome
|
|---|---|
| Published in |
International Journal of Hematology, September 2010
|
| DOI | 10.1007/s12185-010-0681-y |
| Pubmed ID | |
| Authors |
Ali Bay, Mehmet Keskin, Samil Hizli, Hatice Uygun, Alper Dai, Fatma Gumruk |
| Abstract |
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent. |
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 % |
|---|---|---|
| Unknown | 72 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Lecturer | 20 | 28% |
| Student > Master | 6 | 8% |
| Student > Bachelor | 5 | 7% |
| Student > Postgraduate | 4 | 6% |
| Student > Ph. D. Student | 4 | 6% |
| Other | 12 | 17% |
| Unknown | 21 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Nursing and Health Professions | 27 | 38% |
| Medicine and Dentistry | 17 | 24% |
| Agricultural and Biological Sciences | 2 | 3% |
| Biochemistry, Genetics and Molecular Biology | 1 | 1% |
| Arts and Humanities | 1 | 1% |
| Other | 1 | 1% |
| Unknown | 23 | 32% |
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 25 July 2021.
All research outputs
#7,453,827
of 22,787,797 outputs
Outputs from International Journal of Hematology
#253
of 1,392 outputs
Outputs of similar age
#34,296
of 95,339 outputs
Outputs of similar age from International Journal of Hematology
#3
of 8 outputs
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So far Altmetric has tracked 1,392 research outputs from this source. They receive a mean Attention Score of 3.6. This one has gotten more attention than average, scoring higher than 62% of its peers.
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