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Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2017
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Title
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
Published in
Orphanet Journal of Rare Diseases, February 2017
DOI 10.1186/s13023-017-0577-5
Pubmed ID
Authors

Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni

Abstract

Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms. A long term study with detailed reports on clinical, neurochemical and neuropsychological outcomes of the first Italian patients affected by AGAT-d here reported can represent a landmark in management of this disorder thus enhancing medical knowledge and clinical practice. We have evaluated the long term effects of Cr supplementation management in four Italian patients affected by AGAT-d, correlating specific treatments with serial clinical, biochemical and magnetic resonance spectroscopy examinations as well as the neuropsychological outcome by standardized developmental scales. Consecutive MRS examinations have confirmed that Cr depletion in AGAT-d patients is reversible under Cr supplementation. Cr treatment is considered safe and well tolerated but side effects, including weight gain and kidney stones, have been reported. Early treatment prevents adverse developmental outcome, while patients diagnosed and treated at an older age showed partial but significant cognitive recovery with clear improvements in adaptive functioning.

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Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 24%
Student > Bachelor 5 20%
Other 3 12%
Student > Master 3 12%
Student > Postgraduate 3 12%
Other 4 16%
Unknown 1 4%
Readers by discipline Count As %
Psychology 6 24%
Medicine and Dentistry 5 20%
Nursing and Health Professions 5 20%
Biochemistry, Genetics and Molecular Biology 2 8%
Neuroscience 2 8%
Other 4 16%
Unknown 1 4%

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 02 February 2017.
All research outputs
#7,801,680
of 9,000,236 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,079
of 1,180 outputs
Outputs of similar age
#255,438
of 309,286 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#45
of 55 outputs
Altmetric has tracked 9,000,236 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 1,180 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.3. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 55 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.