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Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Overview of attention for article published in Metabolic Brain Disease, February 2018
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Title
Treatment outcome of creatine transporter deficiency: international retrospective cohort study
Published in
Metabolic Brain Disease, February 2018
DOI 10.1007/s11011-018-0197-3
Pubmed ID
Authors

Theodora U. J. Bruun, Sarah Sidky, Anabela O. Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D. Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O’Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S. Salomons, Saadet Mercimek-Andrews

Abstract

To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe. We applied the clinical severity score pre- and on-treatment. Seventeen patients, 14 males and 3 females, from 16 families were included. Four patients had severe, 6 patients had moderate, and 7 patients had a mild phenotype. The phenotype ranged from mild to severe in patients diagnosed at or before 2 years of age or older than 6 years of age. The phenotype ranged from mild to severe in patients with mildly elevated urine creatine to creatinine ratio. Fourteen patients were on the combined creatine, arginine and glycine therapy. On the combined treatment with creatine, arginine and glycine, none of the males showed either deterioration or improvements in their clinical severity score, whereas two females showed improvements in the clinical severity score. Creatine monotherapy resulted in deterioration of the clinical severity score in one male. There seems to be no correlation between phenotype and degree of elevation in urine creatine to creatinine ratio, genotype, or age at diagnosis. Combined creatine, arginine and glycine therapy might have stopped disease progression in males and improved phenotype in females.

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Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Other 5 22%
Student > Ph. D. Student 4 17%
Student > Master 3 13%
Student > Postgraduate 2 9%
Professor > Associate Professor 2 9%
Other 3 13%
Unknown 4 17%
Readers by discipline Count As %
Medicine and Dentistry 4 17%
Agricultural and Biological Sciences 2 9%
Biochemistry, Genetics and Molecular Biology 2 9%
Psychology 2 9%
Unspecified 1 4%
Other 7 30%
Unknown 5 22%

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 11 January 2019.
All research outputs
#12,488,266
of 14,123,515 outputs
Outputs from Metabolic Brain Disease
#534
of 670 outputs
Outputs of similar age
#238,050
of 274,633 outputs
Outputs of similar age from Metabolic Brain Disease
#19
of 27 outputs
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