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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2006
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1 tweeter
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1 Facebook page

Citations

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113 Dimensions

Readers on

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82 Mendeley
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1 Connotea
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Title
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Published in
Orphanet Journal of Rare Diseases, April 2006
DOI 10.1186/1750-1172-1-13
Pubmed ID
Authors

Dorothea Haas, Georg F Hoffmann

Abstract

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 82 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 1%
United States 1 1%
Brazil 1 1%
Unknown 79 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 17%
Student > Ph. D. Student 12 15%
Student > Master 12 15%
Student > Postgraduate 7 9%
Student > Bachelor 6 7%
Other 27 33%
Unknown 4 5%
Readers by discipline Count As %
Medicine and Dentistry 42 51%
Agricultural and Biological Sciences 13 16%
Biochemistry, Genetics and Molecular Biology 9 11%
Chemistry 3 4%
Immunology and Microbiology 3 4%
Other 4 5%
Unknown 8 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 04 March 2015.
All research outputs
#7,499,506
of 12,439,665 outputs
Outputs from Orphanet Journal of Rare Diseases
#886
of 1,352 outputs
Outputs of similar age
#108,388
of 218,715 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#19
of 35 outputs
Altmetric has tracked 12,439,665 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,352 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one is in the 30th percentile – i.e., 30% 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 218,715 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.