| Title |
X-linked creatine transporter deficiency
|
|---|---|
| Published in |
neurogenetics, August 2005
|
| DOI | 10.1007/s10048-005-0002-4 |
| Pubmed ID | |
| Authors |
Maria C. Schiaffino, Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, Eugenio Bonioli |
| Abstract |
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment. |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor | 4 | 27% |
| Other | 3 | 20% |
| Researcher | 3 | 20% |
| Student > Ph. D. Student | 2 | 13% |
| Lecturer > Senior Lecturer | 1 | 7% |
| Other | 2 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 33% |
| Agricultural and Biological Sciences | 4 | 27% |
| Neuroscience | 3 | 20% |
| Decision Sciences | 1 | 7% |
| Psychology | 1 | 7% |
| Other | 1 | 7% |
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 20 December 2007.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from neurogenetics
#116
of 376 outputs
Outputs of similar age
#20,106
of 57,291 outputs
Outputs of similar age from neurogenetics
#1
of 2 outputs
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