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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Overview of attention for article published in Genetics in Medicine, April 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (54th percentile)

Mentioned by

3 tweeters
1 Facebook page


35 Dimensions

Readers on

48 Mendeley
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Published in
Genetics in Medicine, April 2017
DOI 10.1038/gim.2017.7
Pubmed ID

Margaret M. McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Melissa P. Wasserstein


Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement. An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes. Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD.Genet Med advance online publication 13 April 2017Genetics in Medicine (2017); doi:10.1038/gim.2017.7.

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 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 48 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 23%
Student > Ph. D. Student 6 13%
Other 5 10%
Student > Bachelor 5 10%
Student > Master 4 8%
Other 8 17%
Unknown 9 19%
Readers by discipline Count As %
Medicine and Dentistry 17 35%
Biochemistry, Genetics and Molecular Biology 8 17%
Computer Science 3 6%
Immunology and Microbiology 2 4%
Agricultural and Biological Sciences 2 4%
Other 4 8%
Unknown 12 25%

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 22 April 2017.
All research outputs
of 15,062,515 outputs
Outputs from Genetics in Medicine
of 2,063 outputs
Outputs of similar age
of 266,352 outputs
Outputs of similar age from Genetics in Medicine
of 47 outputs
Altmetric has tracked 15,062,515 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,063 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.2. This one is in the 20th percentile – i.e., 20% 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 266,352 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 54% of its contemporaries.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.