| Title |
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, November 2016
|
| DOI | 10.1007/s10545-016-9990-5 |
| Pubmed ID | |
| Authors |
Lindsey Welling, Laurie E. Bernstein, Gerard T. Berry, Alberto B. Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, Pat A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio‐Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch, On behalf of the Galactosemia Network |
| Abstract |
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up. |
X Demographics
The data shown below were collected from the profiles of 23 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 4 | 17% |
| United States | 3 | 13% |
| Ireland | 2 | 9% |
| Venezuela, Bolivarian Republic of | 1 | 4% |
| India | 1 | 4% |
| Unknown | 12 | 52% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 10 | 43% |
| Members of the public | 10 | 43% |
| Science communicators (journalists, bloggers, editors) | 2 | 9% |
| Scientists | 1 | 4% |
Mendeley readers
The data shown below were compiled from readership statistics for 281 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | <1% |
| Unknown | 280 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 47 | 17% |
| Student > Master | 40 | 14% |
| Researcher | 25 | 9% |
| Other | 21 | 7% |
| Student > Ph. D. Student | 15 | 5% |
| Other | 32 | 11% |
| Unknown | 101 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 61 | 22% |
| Biochemistry, Genetics and Molecular Biology | 40 | 14% |
| Nursing and Health Professions | 25 | 9% |
| Agricultural and Biological Sciences | 14 | 5% |
| Psychology | 8 | 3% |
| Other | 23 | 8% |
| Unknown | 110 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 18. 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 27 November 2023.
All research outputs
#1,948,385
of 24,882,360 outputs
Outputs from Journal of Inherited Metabolic Disease
#57
of 1,970 outputs
Outputs of similar age
#38,665
of 428,893 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#4
of 16 outputs
Altmetric has tracked 24,882,360 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,970 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 97% of its peers.
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We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.