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A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report

Overview of attention for article published in BMC Research Notes, November 2014
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Mentioned by

twitter
1 tweeter

Citations

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18 Dimensions

Readers on

mendeley
29 Mendeley
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Title
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report
Published in
BMC Research Notes, November 2014
DOI 10.1186/1756-0500-7-783
Pubmed ID
Authors

Amir MI Babiker, Iman Al Gadi, Nasir AM Al-Jurayyan, Abdulrahman MH Al Nemri, AliAbdu N Al haboob, Ahmed Amer Al Boukai, Ali Al Zahrani, Hanan Ahmed Habib

Abstract

Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1alpha-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
Unknown 28 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 17%
Other 3 10%
Student > Bachelor 3 10%
Student > Doctoral Student 3 10%
Researcher 3 10%
Other 6 21%
Unknown 6 21%
Readers by discipline Count As %
Medicine and Dentistry 12 41%
Biochemistry, Genetics and Molecular Biology 5 17%
Pharmacology, Toxicology and Pharmaceutical Science 2 7%
Agricultural and Biological Sciences 1 3%
Unspecified 1 3%
Other 2 7%
Unknown 6 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 06 May 2021.
All research outputs
#14,128,156
of 21,063,002 outputs
Outputs from BMC Research Notes
#2,191
of 4,091 outputs
Outputs of similar age
#145,633
of 253,783 outputs
Outputs of similar age from BMC Research Notes
#233
of 411 outputs
Altmetric has tracked 21,063,002 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,091 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.3. This one is in the 35th percentile – i.e., 35% 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 253,783 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 411 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.