| Title |
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
|
|---|---|
| Published in |
Pediatric Nephrology, December 2014
|
| DOI | 10.1007/s00467-014-3013-2 |
| Pubmed ID | |
| Authors |
Florian Recker, Marcin Zaniew, Detlef Böckenhauer, Nunzia Miglietti, Arend Bökenkamp, Anna Moczulska, Anna Rogowska-Kalisz, Guido Laube, Valerie Said-Conti, Belde Kasap-Demir, Anna Niemirska, Mieczysław Litwin, Grzegorz Siteń, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Sidharth K. Sethi, Velibor Tasic, Franca Anglani, Maria Addis, Anna Wasilewska, Maria Szczepańska, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig |
| Abstract |
The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ecuador | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 63 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 12 | 19% |
| Student > Ph. D. Student | 9 | 14% |
| Researcher | 6 | 10% |
| Student > Master | 6 | 10% |
| Professor > Associate Professor | 3 | 5% |
| Other | 8 | 13% |
| Unknown | 19 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 24% |
| Agricultural and Biological Sciences | 9 | 14% |
| Biochemistry, Genetics and Molecular Biology | 8 | 13% |
| Neuroscience | 4 | 6% |
| Psychology | 3 | 5% |
| Other | 3 | 5% |
| Unknown | 21 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 77. 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 July 2022.
All research outputs
#468,708
of 22,797,621 outputs
Outputs from Pediatric Nephrology
#12
of 3,537 outputs
Outputs of similar age
#6,226
of 359,806 outputs
Outputs of similar age from Pediatric Nephrology
#1
of 46 outputs
Altmetric has tracked 22,797,621 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,537 research outputs from this source. They receive a mean Attention Score of 4.9. This one has done particularly well, scoring higher than 99% of its peers.
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We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 97% of its contemporaries.