| Title |
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, May 2012
|
| DOI | 10.1186/1750-1172-7-31 |
| Pubmed ID | |
| Authors |
Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W Yue, Matthias R Baumgartner |
| Abstract |
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asymptomatic adults. |
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 % |
|---|---|---|
| United States | 1 | 17% |
| Canada | 1 | 17% |
| Netherlands | 1 | 17% |
| Unknown | 3 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 83% |
| Scientists | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 83 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| Unknown | 82 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 13 | 16% |
| Student > Ph. D. Student | 8 | 10% |
| Student > Bachelor | 8 | 10% |
| Professor > Associate Professor | 7 | 8% |
| Other | 6 | 7% |
| Other | 15 | 18% |
| Unknown | 26 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 23 | 28% |
| Medicine and Dentistry | 15 | 18% |
| Agricultural and Biological Sciences | 12 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
| Chemistry | 2 | 2% |
| Other | 6 | 7% |
| Unknown | 23 | 28% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 08 December 2022.
All research outputs
#4,594,762
of 23,299,593 outputs
Outputs from Orphanet Journal of Rare Diseases
#625
of 2,672 outputs
Outputs of similar age
#31,336
of 166,342 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 14 outputs
Altmetric has tracked 23,299,593 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,672 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.7. This one has done well, scoring higher than 76% of its peers.
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 166,342 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.