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What is new in CDG?

Overview of attention for article published in Journal of Inherited Metabolic Disease, May 2017
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Title
What is new in CDG?
Published in
Journal of Inherited Metabolic Disease, May 2017
DOI 10.1007/s10545-017-0050-6
Pubmed ID
Authors

Jaak Jaeken, Romain Péanne

Abstract

Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2. Besides, it discusses novel phenotypes of known CDG (DHDDS-CDG, ALG9-CDG, EXT2-CDG, PIGA-CDG, PIGN-CDG), the elucidation of putative glycosyltransferase disorders as O-mannosylglycan synthesis disorders (TMEM5-CDG, ISPD-CDG, FKTN-CDG, FKRP-CDG), a novel CDG mechanism, advances in diagnosis, pathogenesis, treatment and finally an updated list of the 104 known CDG.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 120 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Unknown 119 99%

Demographic breakdown

Readers by professional status Count As %
Student > Master 21 18%
Researcher 17 14%
Student > Bachelor 15 13%
Student > Ph. D. Student 13 11%
Other 11 9%
Other 18 15%
Unknown 25 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 35 29%
Medicine and Dentistry 21 18%
Agricultural and Biological Sciences 12 10%
Chemistry 5 4%
Pharmacology, Toxicology and Pharmaceutical Science 4 3%
Other 11 9%
Unknown 32 27%
Attention Score in Context

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 14 May 2017.
All research outputs
#20,420,242
of 22,971,207 outputs
Outputs from Journal of Inherited Metabolic Disease
#1,786
of 1,866 outputs
Outputs of similar age
#270,393
of 310,587 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#15
of 18 outputs
Altmetric has tracked 22,971,207 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,866 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 1st percentile – i.e., 1% 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 310,587 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.