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From hypertransaminasemia to mucopolysaccharidosis IIIA

Overview of attention for article published in Italian Journal of Pediatrics, December 2014
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2 tweeters

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7 Dimensions

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61 Mendeley
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Title
From hypertransaminasemia to mucopolysaccharidosis IIIA
Published in
Italian Journal of Pediatrics, December 2014
DOI 10.1186/s13052-014-0097-z
Pubmed ID
Authors

Paulina Krawiec, Elżbieta Pac-Kożuchowska, Beata Mełges, Agnieszka Mroczkowska-Juchkiewicz, Stanisław Skomra, Agnieszka Pawłowska-Kamieniak, Katarzyna Kominek

Abstract

Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, attention deficit/hyperactivity disorder or autism. We report a case of a 5-year-old boy with developmental delay and behaviour problems admitted to the Department of Paediatrics due to chronic hypertransaminasemia. The patient developed normally until the age of 2 years when he was referred to a paediatric neurologist for suspected motor and speech delay. Liver function tests were unexpectedly found elevated at the age of 3.5 years. Physical examination revealed obesity, mildly coarse facial features and stocky hands. He showed mental retardation and mild motor delay. The clinical picture strongly suggested mucopolysaccharidosis. The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.ConclusionWe strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters 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 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 61 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 16%
Student > Master 9 15%
Student > Bachelor 6 10%
Other 5 8%
Professor 5 8%
Other 16 26%
Unknown 10 16%
Readers by discipline Count As %
Medicine and Dentistry 15 25%
Psychology 7 11%
Nursing and Health Professions 5 8%
Sports and Recreations 5 8%
Agricultural and Biological Sciences 4 7%
Other 12 20%
Unknown 13 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 13 January 2016.
All research outputs
#7,801,324
of 12,434,754 outputs
Outputs from Italian Journal of Pediatrics
#205
of 444 outputs
Outputs of similar age
#162,989
of 313,097 outputs
Outputs of similar age from Italian Journal of Pediatrics
#21
of 49 outputs
Altmetric has tracked 12,434,754 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 444 research outputs from this source. They receive a mean Attention Score of 3.5. This one is in the 47th percentile – i.e., 47% 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 313,097 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.