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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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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

The data shown below were compiled from readership statistics for 59 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 59 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 13 22%
Student > Master 12 20%
Researcher 9 15%
Other 6 10%
Student > Doctoral Student 3 5%
Other 6 10%
Unknown 10 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 17 29%
Medicine and Dentistry 11 19%
Agricultural and Biological Sciences 5 8%
Chemistry 4 7%
Nursing and Health Professions 2 3%
Other 7 12%
Unknown 13 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 26 December 2017.
All research outputs
#10,944,988
of 12,350,579 outputs
Outputs from Genetics in Medicine
#1,629
of 1,698 outputs
Outputs of similar age
#282,435
of 337,884 outputs
Outputs of similar age from Genetics in Medicine
#38
of 40 outputs
Altmetric has tracked 12,350,579 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
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We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.