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Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

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

  • Above-average Attention Score compared to outputs of the same age (61st percentile)

Mentioned by

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1 patent
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1 Facebook page

Citations

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36 Dimensions

Readers on

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109 Mendeley
Title
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
Published in
Genetics in Medicine, October 2017
DOI 10.1038/gim.2017.172
Pubmed ID
Authors

Marzia Pasquali, Chunli Yu, Bradford Coffee

Abstract

Disclaimer: These ACMG Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Galactosemias are inherited disorders of galactose metabolism due to deficiency in one of the three enzymes involved in the Leloir pathway: galactose-1-phosphate uridyltransferase, galactokinase, and uridine diphosphate (UDP)-galactose-4'-epimerase. Galactose-1-phosphate uridyltransferase deficiency, or classic galactosemia, is the most frequent and the most severe of the three enzyme deficiencies; it is characterized by failure to thrive, liver failure, susceptibility to sepsis, and death, if untreated. Newborn screening for classic galactosemia has been implemented in all of the United States, while screening for galactokinase deficiency and UDP-galactose-4'-epimerase deficiency is not universal. Early identification and treatment of galactosemia leads to improved outcome. This document reviews the laboratory methods and best practices for the diagnosis of galactosemia.Genetics in Medicine advance online publication, 26 October 2017; doi:10.1038/gim.2017.172.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 109 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 109 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 20 18%
Student > Master 15 14%
Researcher 11 10%
Other 8 7%
Student > Doctoral Student 5 5%
Other 10 9%
Unknown 40 37%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 24 22%
Medicine and Dentistry 16 15%
Agricultural and Biological Sciences 7 6%
Chemistry 6 6%
Nursing and Health Professions 5 5%
Other 9 8%
Unknown 42 39%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 05 January 2023.
All research outputs
#8,264,793
of 25,382,440 outputs
Outputs from Genetics in Medicine
#1,996
of 2,945 outputs
Outputs of similar age
#125,825
of 338,126 outputs
Outputs of similar age from Genetics in Medicine
#54
of 66 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 2,945 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one is in the 31st percentile – i.e., 31% 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 338,126 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 61% of its contemporaries.
We're also able to compare this research output to 66 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.