| Title |
Sweet and sour: an update on classic galactosemia
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, March 2017
|
| DOI | 10.1007/s10545-017-0029-3 |
| Pubmed ID | |
| Authors |
Ana I. Coelho, M. Estela Rubio‐Gozalbo, João B. Vicente, Isabel Rivera |
| Abstract |
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 17% |
| Unknown | 5 | 83% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 3 | 50% |
| Members of the public | 1 | 17% |
| Practitioners (doctors, other healthcare professionals) | 1 | 17% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 266 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | <1% |
| Unknown | 265 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 65 | 24% |
| Student > Master | 27 | 10% |
| Researcher | 18 | 7% |
| Student > Doctoral Student | 13 | 5% |
| Student > Postgraduate | 12 | 5% |
| Other | 38 | 14% |
| Unknown | 93 | 35% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 54 | 20% |
| Biochemistry, Genetics and Molecular Biology | 50 | 19% |
| Agricultural and Biological Sciences | 20 | 8% |
| Nursing and Health Professions | 15 | 6% |
| Chemistry | 7 | 3% |
| Other | 20 | 8% |
| Unknown | 100 | 38% |
Attention Score in Context
This research output has an Altmetric Attention Score of 22. 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 28 February 2023.
All research outputs
#1,704,154
of 25,759,158 outputs
Outputs from Journal of Inherited Metabolic Disease
#39
of 2,021 outputs
Outputs of similar age
#32,252
of 322,083 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#1
of 19 outputs
Altmetric has tracked 25,759,158 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,021 research outputs from this source. They receive a mean Attention Score of 4.9. This one has done particularly well, scoring higher than 98% of its peers.
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We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.