Title |
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
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Published in |
Orphanet Journal of Rare Diseases, August 2011
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DOI | 10.1186/1750-1172-6-55 |
Pubmed ID | |
Authors |
Minke H de Ru, Jaap J Boelens, Anibh M Das, Simon A Jones, Johanna H van der Lee, Nizar Mahlaoui, Eugen Mengel, Martin Offringa, Anne O'Meara, Rossella Parini, Attilio Rovelli, Karl-Walter Sykora, Vassili Valayannopoulos, Ashok Vellodi, Robert F Wynn, Frits A Wijburg |
Abstract |
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotype (MPS I-H) which is characterized by early and progressive central nervous system (CNS) involvement to the attenuated Scheie phenotype (MPS I-S) with no CNS involvement. Indication, optimal timing, safety and efficacy of the two available treatment options for MPS I, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), are subject to continuing debate. A European consensus procedure was organized to reach consensus about the use of these two treatment strategies. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | <1% |
Colombia | 1 | <1% |
Netherlands | 1 | <1% |
Unknown | 182 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 26 | 14% |
Researcher | 22 | 12% |
Student > Bachelor | 20 | 11% |
Other | 15 | 8% |
Student > Postgraduate | 15 | 8% |
Other | 40 | 22% |
Unknown | 47 | 25% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 62 | 34% |
Agricultural and Biological Sciences | 23 | 12% |
Biochemistry, Genetics and Molecular Biology | 20 | 11% |
Neuroscience | 4 | 2% |
Psychology | 4 | 2% |
Other | 18 | 10% |
Unknown | 54 | 29% |