Title |
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
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Published in |
Orphanet Journal of Rare Diseases, April 2012
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DOI | 10.1186/1750-1172-7-22 |
Pubmed ID | |
Authors |
Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman, Frits A Wijburg |
Abstract |
Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzyme replacement therapy or hematopoietic stem cell transplantation) need to be made quickly and depend on the presumed phenotype, an assessment of phenotypic severity should be performed soon after diagnosis. Therefore, a numerical severity scale for classifying different MPS I phenotypes at diagnosis based on clinical signs and symptoms was developed. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 13 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 3 | 23% |
Student > Ph. D. Student | 3 | 23% |
Other | 2 | 15% |
Student > Doctoral Student | 2 | 15% |
Researcher | 1 | 8% |
Other | 1 | 8% |
Unknown | 1 | 8% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 5 | 38% |
Agricultural and Biological Sciences | 3 | 23% |
Biochemistry, Genetics and Molecular Biology | 2 | 15% |
Psychology | 1 | 8% |
Nursing and Health Professions | 1 | 8% |
Other | 0 | 0% |
Unknown | 1 | 8% |