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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Overview of attention for article published in Pediatrics, June 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (57th percentile)

Mentioned by

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3 tweeters

Citations

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14 Dimensions

Readers on

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37 Mendeley
Title
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease
Published in
Pediatrics, June 2017
DOI 10.1542/peds.2016-0280d
Pubmed ID
Authors

Barbara K. Burton, David F. Kronn, Wuh-Liang Hwu, Priya S. Kishnani, on behalf of the Pompe Disease Newborn Screening Working Group

Abstract

Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis of Pompe disease. This article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement provides recommendations for confirmatory testing after a positive NBS result indicative of Pompe disease is obtained. Two algorithms were developed by the Pompe Disease Newborn Screening Working Group, a group of international experts on both NBS and Pompe disease, based on whether DNA sequencing is performed as part of the screening method. Using the recommendations in either algorithm will lead to 1 of 3 diagnoses: classic infantile-onset Pompe disease, late-onset Pompe disease, or no disease/not affected/carrier. Mutation analysis of the GAA gene is essential for confirming the biochemical diagnosis of Pompe disease. For NBS laboratories that do not have DNA sequencing capabilities, the responsibility of obtaining sequencing of the GAA gene will fall on the referral center. The recommendations for confirmatory testing and the initial evaluation are intended for a broad global audience. However, the Working Group recognizes that clinical practices, standards of care, and resource capabilities vary not only regionally, but also by testing centers. Individual patient needs and health status as well as local/regional insurance reimbursement programs and regulations also must be considered.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 37 100%

Demographic breakdown

Readers by professional status Count As %
Other 8 22%
Researcher 7 19%
Student > Postgraduate 6 16%
Student > Master 4 11%
Student > Doctoral Student 2 5%
Other 6 16%
Unknown 4 11%
Readers by discipline Count As %
Medicine and Dentistry 13 35%
Biochemistry, Genetics and Molecular Biology 7 19%
Immunology and Microbiology 3 8%
Nursing and Health Professions 2 5%
Agricultural and Biological Sciences 2 5%
Other 5 14%
Unknown 5 14%

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 02 December 2017.
All research outputs
#6,562,009
of 12,236,571 outputs
Outputs from Pediatrics
#8,507
of 11,896 outputs
Outputs of similar age
#111,690
of 266,438 outputs
Outputs of similar age from Pediatrics
#147
of 184 outputs
Altmetric has tracked 12,236,571 research outputs across all sources so far. This one is in the 46th percentile – i.e., 46% of other outputs scored the same or lower than it.
So far Altmetric has tracked 11,896 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 34.8. This one is in the 28th percentile – i.e., 28% 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 266,438 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.
We're also able to compare this research output to 184 others from the same source and published within six weeks on either side of this one. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.