FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990442073> ?p ?o ?g. }

• W1990442073 abstract "Abstract 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 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. 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 indicators of phenotypic severity and include these in a numerical severity scale. The correlation between the median subjective expert MPS I rating and the scores derived from this severity scale was used as an indicator of validity. Results Full consensus was reached on six key clinical items for assessing severity: age of onset of signs and symptoms, developmental delay, joint stiffness/arthropathy/contractures, kyphosis, cardiomyopathy and large head/frontal bossing. Due to the remarkably large variability in the expert MPS I assessments, however, a reliable numerical scale could not be constructed. Because of this variability, such a scale would always result in patients whose calculated severity score differed unacceptably from the median expert severity score, which was considered to be the 'gold standard'. Conclusions Although consensus was reached on the six key items for assessing phenotypic severity in MPS I, expert opinion on phenotypic severity at diagnosis proved to be highly variable. This subjectivity emphasizes the need for validated biomarkers and improved genotype-phenotype correlations that can be incorporated into phenotypic severity assessments at diagnosis." @default.
• W1990442073 created "2016-06-24" @default.
• W1990442073 creator A5002413922 @default.
• W1990442073 creator A5015169555 @default.
• W1990442073 creator A5017093187 @default.
• W1990442073 creator A5024669037 @default.
• W1990442073 creator A5028603190 @default.
• W1990442073 creator A5033863188 @default.
• W1990442073 creator A5035003505 @default.
• W1990442073 creator A5038433300 @default.
• W1990442073 creator A5048137178 @default.
• W1990442073 creator A5049850369 @default.
• W1990442073 creator A5053216719 @default.
• W1990442073 creator A5053598953 @default.
• W1990442073 creator A5059361854 @default.
• W1990442073 creator A5059494159 @default.
• W1990442073 creator A5082665224 @default.
• W1990442073 creator A5084109617 @default.
• W1990442073 creator A5084371637 @default.
• W1990442073 date "2012-04-23" @default.
• W1990442073 modified "2023-10-16" @default.
• W1990442073 title "Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure" @default.
• W1990442073 cites W1967355953 @default.
• W1990442073 cites W1985193566 @default.
• W1990442073 cites W1990211122 @default.
• W1990442073 cites W2001982317 @default.
• W1990442073 cites W2022167001 @default.
• W1990442073 cites W2029840709 @default.
• W1990442073 cites W2039563731 @default.
• W1990442073 cites W2041954226 @default.
• W1990442073 cites W2043754477 @default.
• W1990442073 cites W2059192486 @default.
• W1990442073 cites W2059934840 @default.
• W1990442073 cites W2062570425 @default.
• W1990442073 cites W2066740983 @default.
• W1990442073 cites W2067724039 @default.
• W1990442073 cites W2073929542 @default.
• W1990442073 cites W2085884984 @default.
• W1990442073 cites W2089680458 @default.
• W1990442073 cites W2104556052 @default.
• W1990442073 cites W2107430825 @default.
• W1990442073 cites W2115745847 @default.
• W1990442073 cites W2118008075 @default.
• W1990442073 cites W2136255603 @default.
• W1990442073 cites W2141904817 @default.
• W1990442073 cites W2148888842 @default.
• W1990442073 cites W2148949075 @default.
• W1990442073 cites W2156621878 @default.
• W1990442073 cites W2312413018 @default.
• W1990442073 cites W2735735717 @default.
• W1990442073 cites W4240362310 @default.
• W1990442073 doi "https://doi.org/10.1186/1750-1172-7-22" @default.
• W1990442073 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3379958" @default.
• W1990442073 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22524701" @default.
• W1990442073 hasPublicationYear "2012" @default.
• W1990442073 type Work @default.
• W1990442073 sameAs 1990442073 @default.
• W1990442073 citedByCount "29" @default.
• W1990442073 countsByYear W19904420732012 @default.
• W1990442073 countsByYear W19904420732013 @default.
• W1990442073 countsByYear W19904420732014 @default.
• W1990442073 countsByYear W19904420732015 @default.
• W1990442073 countsByYear W19904420732016 @default.
• W1990442073 countsByYear W19904420732017 @default.
• W1990442073 countsByYear W19904420732018 @default.
• W1990442073 countsByYear W19904420732019 @default.
• W1990442073 countsByYear W19904420732020 @default.
• W1990442073 countsByYear W19904420732021 @default.
• W1990442073 countsByYear W19904420732022 @default.
• W1990442073 countsByYear W19904420732023 @default.
• W1990442073 crossrefType "journal-article" @default.
• W1990442073 hasAuthorship W1990442073A5002413922 @default.
• W1990442073 hasAuthorship W1990442073A5015169555 @default.
• W1990442073 hasAuthorship W1990442073A5017093187 @default.
• W1990442073 hasAuthorship W1990442073A5024669037 @default.
• W1990442073 hasAuthorship W1990442073A5028603190 @default.
• W1990442073 hasAuthorship W1990442073A5033863188 @default.
• W1990442073 hasAuthorship W1990442073A5035003505 @default.
• W1990442073 hasAuthorship W1990442073A5038433300 @default.
• W1990442073 hasAuthorship W1990442073A5048137178 @default.
• W1990442073 hasAuthorship W1990442073A5049850369 @default.
• W1990442073 hasAuthorship W1990442073A5053216719 @default.
• W1990442073 hasAuthorship W1990442073A5053598953 @default.
• W1990442073 hasAuthorship W1990442073A5059361854 @default.
• W1990442073 hasAuthorship W1990442073A5059494159 @default.
• W1990442073 hasAuthorship W1990442073A5082665224 @default.
• W1990442073 hasAuthorship W1990442073A5084109617 @default.
• W1990442073 hasAuthorship W1990442073A5084371637 @default.
• W1990442073 hasBestOaLocation W19904420731 @default.
• W1990442073 hasConcept C104317684 @default.
• W1990442073 hasConcept C126322002 @default.
• W1990442073 hasConcept C127716648 @default.
• W1990442073 hasConcept C205649164 @default.
• W1990442073 hasConcept C2778755073 @default.
• W1990442073 hasConcept C2779134260 @default.
• W1990442073 hasConcept C2779416428 @default.
• W1990442073 hasConcept C2779969927 @default.
• W1990442073 hasConcept C2910509766 @default.
• W1990442073 hasConcept C2910727661 @default.
• W1990442073 hasConcept C54355233 @default.

• next