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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2012
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

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2 X users
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1 Wikipedia page
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1 Google+ user

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74 Mendeley
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Title
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Published in
Orphanet Journal of Rare Diseases, November 2012
DOI 10.1186/1750-1172-7-90
Pubmed ID
Authors

Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, FORGE Canada Consortium, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott

Abstract

D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor delay, absent language development, and severe hearing and visual impairment. DBP contains three catalytically active domains; an N-terminal dehydrogenase, a central hydratase and a C-terminal sterol carrier protein-2-like domain. Three subtypes of the disease are identified based upon the domain affected; DBP type I results from a combined deficiency of dehydrogenase and hydratase activity; DBP type II from isolated hydratase deficiency and DBP type III from isolated dehydrogenase deficiency. Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 74 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 74 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 16 22%
Researcher 14 19%
Student > Master 10 14%
Student > Bachelor 9 12%
Other 4 5%
Other 10 14%
Unknown 11 15%
Readers by discipline Count As %
Medicine and Dentistry 19 26%
Biochemistry, Genetics and Molecular Biology 16 22%
Agricultural and Biological Sciences 11 15%
Pharmacology, Toxicology and Pharmaceutical Science 4 5%
Nursing and Health Professions 3 4%
Other 8 11%
Unknown 13 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 07 February 2018.
All research outputs
#5,852,724
of 22,687,320 outputs
Outputs from Orphanet Journal of Rare Diseases
#711
of 2,597 outputs
Outputs of similar age
#59,974
of 275,925 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 82 outputs
Altmetric has tracked 22,687,320 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 2,597 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 71% 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 275,925 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 77% of its contemporaries.
We're also able to compare this research output to 82 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.