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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2012
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Title
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
Published in
Orphanet Journal of Rare Diseases, December 2012
DOI 10.1186/1750-1172-7-96
Pubmed ID
Abstract

A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) and creatine:creatinine ratios were measured in a cohort of 6,353 subjects to identify PCD patients and compile their clinical, 1H-MRS, biochemical and molecular data. Six GAMT [N-guanidinoacetatemethyltransferase (EC 2.1.1.2)] and 10 X-linked creatine transporter (SLC6A8) but no AGAT (GATM) [L-arginine/glycine amidinotransferase (EC 2.1.4.1)] deficient patients were identified in this manner. Three additional affected sibs were further identified after familial inquiry (1 brother with GAMT deficiency and 2 brothers with SLC6A8 deficiency in two different families). The prevalence of PCD in this population was 0.25% (0.09% and 0.16% for GAMT and SLC6A8 deficiencies, respectively). Seven new PCD-causing mutations were discovered (2 nonsense [c.577C > T and c.289C > T] and 1 splicing [c.391 + 15G > T] mutations for the GAMT gene and, 2 missense [c.1208C > A and c.926C > A], 1 frameshift [c.930delG] and 1 splicing [c.1393-1G > A] mutations for the SLC6A8 gene). No hot spot mutations were observed in these genes, as all the mutations were distributed throughout the entire gene sequences and were essentially patient/family specific. Approximately one fifth of the mutations of SLC6A8, but not GAMT, were attributed to neo-mutation, germinal or somatic mosaicism events. The only SLC6A8-deficient female patient in our series presented with the severe phenotype usually characterizing affected male patients, an observation in agreement with recent evidence that is in support of the fact that this X-linked disorder might be more frequent than expected in the female population with intellectual disability.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 26 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 31%
Other 5 19%
Student > Master 3 12%
Student > Bachelor 2 8%
Professor 1 4%
Other 6 23%
Unknown 1 4%
Readers by discipline Count As %
Medicine and Dentistry 5 19%
Biochemistry, Genetics and Molecular Biology 4 15%
Agricultural and Biological Sciences 4 15%
Psychology 2 8%
Nursing and Health Professions 2 8%
Other 5 19%
Unknown 4 15%

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 15 December 2012.
All research outputs
#2,310,111
of 4,507,211 outputs
Outputs from Orphanet Journal of Rare Diseases
#515
of 775 outputs
Outputs of similar age
#142,461
of 281,459 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#34
of 44 outputs
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So far Altmetric has tracked 775 research outputs from this source. They receive a mean Attention Score of 3.5. This one is in the 20th percentile – i.e., 20% of its peers scored the same or lower than it.
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