Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12335" target="_blank" >RIV/00216208:11110/12:12335 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/12:12335
Result on the web
<a href="http://dx.doi.org/10.1186/1750-1172-7-22" target="_blank" >http://dx.doi.org/10.1186/1750-1172-7-22</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Original language description
Background: 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 areno 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 ofphenotypic 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. Methods: A consensus procedure based on a combined modified Delphi method and a nominal group technique was undertaken. It consisted of two written rounds and a face-to-face meeting. Sixteen MPS I experts participated in the process. The main goal was to identify the most important i
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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