Title |
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
|
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Published in |
Orphanet Journal of Rare Diseases, November 2012
|
DOI | 10.1186/1750-1172-7-88 |
Pubmed ID | |
Authors |
Nadine AME van der Beek, Juna M de Vries, Marloes LC Hagemans, Wim CJ Hop, Marian A Kroos, John HJ Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Karin G Faber, Jan JGM Verschuuren, Arnold JJ Reuser, Ans T van der Ploeg, Pieter A van Doorn |
Abstract |
Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 25% |
Netherlands | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Argentina | 1 | <1% |
Unknown | 101 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 16 | 16% |
Other | 12 | 12% |
Student > Master | 10 | 10% |
Student > Doctoral Student | 9 | 9% |
Student > Bachelor | 8 | 8% |
Other | 26 | 25% |
Unknown | 21 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 33 | 32% |
Agricultural and Biological Sciences | 13 | 13% |
Biochemistry, Genetics and Molecular Biology | 10 | 10% |
Neuroscience | 4 | 4% |
Engineering | 3 | 3% |
Other | 15 | 15% |
Unknown | 24 | 24% |