Title |
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, June 2011
|
DOI | 10.1186/1750-1172-6-43 |
Pubmed ID | |
Authors |
Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg |
Abstract |
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is the ultimate goal of treatment, assessment of cognitive development will be essential in order to evaluate treatment efficacy. However, no large scale studies on cognitive levels in MPS III patients, using formal psychometric tests, have been reported. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | 1% |
United Kingdom | 1 | 1% |
Denmark | 1 | 1% |
Spain | 1 | 1% |
United States | 1 | 1% |
Unknown | 68 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 14 | 19% |
Student > Master | 11 | 15% |
Student > Bachelor | 8 | 11% |
Student > Ph. D. Student | 7 | 10% |
Other | 5 | 7% |
Other | 14 | 19% |
Unknown | 14 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 17 | 23% |
Agricultural and Biological Sciences | 15 | 21% |
Psychology | 9 | 12% |
Biochemistry, Genetics and Molecular Biology | 5 | 7% |
Neuroscience | 3 | 4% |
Other | 8 | 11% |
Unknown | 16 | 22% |