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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Newborn screening for homocystinurias: recent recommendations versus current practice
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, June 2018
|
| DOI | 10.1007/s10545-018-0213-0 |
| Pubmed ID | |
| Authors |
R. Keller, P. Chrastina, M. Pavlíková, S. Gouveia, A. Ribes, S. Kölker, H. J. Blom, M. R. Baumgartner, J. Bártl, C. Dionisi Vici, F. Gleich, A. A. Morris, V. Kožich, M. Huemer, and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), I. Barić, T. Ben-Omran, J. Blasco-Alonso, M. A. Bueno Delgado, C. Carducci, M. Cassanello, R. Cerone, M. L. Couce, E. Crushell, C. Delgado Pecellin, E. Dulin, M. Espada, G. Ferino, R. Fingerhut, I. Garcia Jimenez, I. Gonzalez Gallego, Y. González-Irazabal, G. Gramer, M. J. Juan Fita, E. Karg, J. Klein, V. Konstantopoulou, G. la Marca, E. Leão Teles, V. Leuzzi, F. Lilliu, R. M. Lopez, A. M. Lund, P. Mayne, S. Meavilla, S. J. Moat, J. G. Okun, E. Pasquini, C. Pedron-Giner, G. Z. Racz, M. A. Ruiz Gomez, L. Vilarinho, R. Yahyaoui, M. Zerjav Tansek, R. H. Zetterström, M. Zeyda |
| Abstract |
To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15,000 healthy newborns. Due to the favourable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, e.g. birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers. |
X Demographics
The data shown below were collected from the profiles of 4 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 | 3 | 75% |
| Unknown | 1 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 22% |
| Student > Ph. D. Student | 2 | 11% |
| Student > Master | 1 | 6% |
| Lecturer > Senior Lecturer | 1 | 6% |
| Professor > Associate Professor | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 8 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 17% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
| Business, Management and Accounting | 1 | 6% |
| Psychology | 1 | 6% |
| Agricultural and Biological Sciences | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 9 | 50% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 24 October 2018.
All research outputs
#14,998,305
of 23,848,132 outputs
Outputs from Journal of Inherited Metabolic Disease
#1,438
of 1,913 outputs
Outputs of similar age
#189,293
of 331,931 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#15
of 35 outputs
Altmetric has tracked 23,848,132 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,913 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 22nd percentile – i.e., 22% of its peers scored the same or lower than it.
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 331,931 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.