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12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

Overview of attention for article published in BMC Medical Genomics, March 2016
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Title
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Published in
BMC Medical Genomics, March 2016
DOI 10.1186/s12881-016-0284-4
Pubmed ID
Authors

Orazio Gabrielli, Lorne A. Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi, Giovanni V. Coppa

Abstract

Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis type I is classified into two forms: severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement and attenuated (Hurler/Scheie and Scheie syndromes), which presents with slower progression and absent to mild nervous system involvement. The specific treatment for attenuated Mucopolysaccharidosis type I consists of enzyme-replacement therapy with laronidase (human recombinant α-L-iduronidase, Aldurazyme). We present here the clinical and laboratory results in an 12-year-old patient affected by the attenuated form of Mucopolysaccharidosis type I treated by enzyme-replacement therapy from the age of 5 months, compared with his 17 year old affected sister, who started therapy at 5 years of age. Clinical evaluation of these siblings shows that initiation of therapy prior of the onset of clinically detectable disease resulted in considerable improvement in outcome in the young sibling. After 12 years of enzyme-replacement therapy, facial appearance, linear growth rate, and liver and spleen volumes were normal; moreover, the degree of joint disease, vertebral, and cardiac valvular involvement were only minimal compared with those of his sister. This study demonstrates that early diagnosis and early initiation of enzyme-replacement therapy substantially modify the natural history of the attenuated form of Mucopolysaccharidosis type I.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 66 100%

Demographic breakdown

Readers by professional status Count As %
Other 11 17%
Researcher 11 17%
Student > Ph. D. Student 8 12%
Student > Master 6 9%
Student > Bachelor 5 8%
Other 15 23%
Unknown 10 15%
Readers by discipline Count As %
Medicine and Dentistry 20 30%
Biochemistry, Genetics and Molecular Biology 12 18%
Pharmacology, Toxicology and Pharmaceutical Science 7 11%
Unspecified 4 6%
Agricultural and Biological Sciences 3 5%
Other 12 18%
Unknown 8 12%
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 12 May 2016.
All research outputs
#17,286,645
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#191,327
of 314,782 outputs
Outputs of similar age from BMC Medical Genomics
#23
of 36 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.