| Title |
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
|
|---|---|
| Published in |
The Lancet, November 2011
|
| DOI | 10.1016/s0140-6736(11)61266-x |
| Pubmed ID | |
| Authors |
Thomas P Mechtler, Susanne Stary, Thomas F Metz, Víctor R De Jesús, Susanne Greber-Platzer, Arnold Pollak, Kurt R Herkner, Berthold Streubel, David C Kasper |
| Abstract |
The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances. We tested for Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in an anonymous prospective nationwide screening study that included genetic mutation analysis to assess the practicality and appropriateness of including these disorders in neonatal screening panels. |
X Demographics
The data shown below were collected from the profiles of 8 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 13% |
| United States | 1 | 13% |
| Argentina | 1 | 13% |
| Unknown | 5 | 63% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 6 | 75% |
| Practitioners (doctors, other healthcare professionals) | 2 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 235 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 2 | <1% |
| Colombia | 1 | <1% |
| India | 1 | <1% |
| United Kingdom | 1 | <1% |
| Denmark | 1 | <1% |
| Unknown | 229 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 50 | 21% |
| Student > Ph. D. Student | 30 | 13% |
| Other | 24 | 10% |
| Student > Master | 18 | 8% |
| Student > Bachelor | 18 | 8% |
| Other | 40 | 17% |
| Unknown | 55 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 85 | 36% |
| Agricultural and Biological Sciences | 28 | 12% |
| Biochemistry, Genetics and Molecular Biology | 27 | 11% |
| Chemistry | 6 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 5 | 2% |
| Other | 22 | 9% |
| Unknown | 62 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 23. 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 July 2021.
All research outputs
#1,662,458
of 25,373,627 outputs
Outputs from The Lancet
#11,163
of 42,669 outputs
Outputs of similar age
#10,814
of 246,422 outputs
Outputs of similar age from The Lancet
#87
of 404 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 42,669 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 67.9. This one has gotten more attention than average, scoring higher than 73% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 246,422 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 95% of its contemporaries.
We're also able to compare this research output to 404 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.