Matches in SemOpenAlex for { <https://semopenalex.org/work/W1480649521> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W1480649521 endingPage "447" @default.
- W1480649521 startingPage "437" @default.
- W1480649521 abstract "Abstract The pathological sequelae of untreated homocystinuria due to cystathionine β‐synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capabilities (mean IQ = 57) in the untreated pyridoxine‐nonresponsive individuals. The mental capabilities of 23 pyridoxine‐nonresponsive individuals with 339 patient‐years of treatment were assessed using age‐appropriate psychometric tests and were compared to those of 10 unaffected siblings (controls). Of the 23 individuals, 19 were diagnosed through newborn screening with early treatment, two were late‐detected and two were untreated at the time of assessment. Thirteen of the newborn, screened group who were compliant with treatment had no complications, while the remaining 6, who had poor compliance, developed complications. Good compliance was defined by a lifetime plasma free homocystine median < 11 μmol/L. The newborn screened, good compliance group ( n = 13) with a mean age of 14.4 years (range 4.4–24.9) had mean full‐scale IQ (FIQ) of 105.8 (range 84–120), while the poorly compliant group ( n = 6) with a mean age of 19.9 years (range 13.8–25.5) had a mean FIQ of 80.8 (range 40–103). The control group ( n = 10) with mean age of 19.4 years (range 9.7–32.9) years had a mean FIQ of 102 (range 76–116). The two late‐detected patients aged 18.9 and 18.8 years had FIQ of 80 and 102, while the two untreated patients aged 22.4 and 11.7 years had FIQ of 52 and 53, respectively. There was no statistical evidence of significant differences between the compliant, early‐treated individuals and their unaffected siblings (controls) except for the FIQ, which was significantly higher than that of the unaffected siblings ( p = 0.0397). These data, despite the relatively small numbers, suggest that early treatment with good biochemical control (lifetime plasma free homocystine median < 11 μmol/L) seems to prevent mental retardation." @default.
- W1480649521 created "2016-06-24" @default.
- W1480649521 creator A5000332027 @default.
- W1480649521 creator A5005818243 @default.
- W1480649521 creator A5012433174 @default.
- W1480649521 creator A5090417663 @default.
- W1480649521 date "2001-07-01" @default.
- W1480649521 modified "2023-10-15" @default.
- W1480649521 title "The intellectual abilities of early‐treated individuals with pyridoxine‐nonresponsive homocystinuria due to cystathionine β‐synthase deficiency" @default.
- W1480649521 cites W1484485266 @default.
- W1480649521 cites W1559869836 @default.
- W1480649521 cites W2061112730 @default.
- W1480649521 cites W2071296874 @default.
- W1480649521 cites W2089661674 @default.
- W1480649521 cites W2098587302 @default.
- W1480649521 cites W2170962595 @default.
- W1480649521 cites W4248845868 @default.
- W1480649521 doi "https://doi.org/10.1023/a:1010525528842" @default.
- W1480649521 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11596648" @default.
- W1480649521 hasPublicationYear "2001" @default.
- W1480649521 type Work @default.
- W1480649521 sameAs 1480649521 @default.
- W1480649521 citedByCount "57" @default.
- W1480649521 countsByYear W14806495212012 @default.
- W1480649521 countsByYear W14806495212013 @default.
- W1480649521 countsByYear W14806495212014 @default.
- W1480649521 countsByYear W14806495212015 @default.
- W1480649521 countsByYear W14806495212016 @default.
- W1480649521 countsByYear W14806495212017 @default.
- W1480649521 countsByYear W14806495212018 @default.
- W1480649521 countsByYear W14806495212019 @default.
- W1480649521 countsByYear W14806495212020 @default.
- W1480649521 countsByYear W14806495212021 @default.
- W1480649521 countsByYear W14806495212023 @default.
- W1480649521 crossrefType "journal-article" @default.
- W1480649521 hasAuthorship W1480649521A5000332027 @default.
- W1480649521 hasAuthorship W1480649521A5005818243 @default.
- W1480649521 hasAuthorship W1480649521A5012433174 @default.
- W1480649521 hasAuthorship W1480649521A5090417663 @default.
- W1480649521 hasConcept C118552586 @default.
- W1480649521 hasConcept C126322002 @default.
- W1480649521 hasConcept C16525657 @default.
- W1480649521 hasConcept C166047926 @default.
- W1480649521 hasConcept C169900460 @default.
- W1480649521 hasConcept C181199279 @default.
- W1480649521 hasConcept C185592680 @default.
- W1480649521 hasConcept C187212893 @default.
- W1480649521 hasConcept C2776169613 @default.
- W1480649521 hasConcept C2776514930 @default.
- W1480649521 hasConcept C2779201268 @default.
- W1480649521 hasConcept C2779375456 @default.
- W1480649521 hasConcept C2780912031 @default.
- W1480649521 hasConcept C515207424 @default.
- W1480649521 hasConcept C55493867 @default.
- W1480649521 hasConcept C71924100 @default.
- W1480649521 hasConceptScore W1480649521C118552586 @default.
- W1480649521 hasConceptScore W1480649521C126322002 @default.
- W1480649521 hasConceptScore W1480649521C16525657 @default.
- W1480649521 hasConceptScore W1480649521C166047926 @default.
- W1480649521 hasConceptScore W1480649521C169900460 @default.
- W1480649521 hasConceptScore W1480649521C181199279 @default.
- W1480649521 hasConceptScore W1480649521C185592680 @default.
- W1480649521 hasConceptScore W1480649521C187212893 @default.
- W1480649521 hasConceptScore W1480649521C2776169613 @default.
- W1480649521 hasConceptScore W1480649521C2776514930 @default.
- W1480649521 hasConceptScore W1480649521C2779201268 @default.
- W1480649521 hasConceptScore W1480649521C2779375456 @default.
- W1480649521 hasConceptScore W1480649521C2780912031 @default.
- W1480649521 hasConceptScore W1480649521C515207424 @default.
- W1480649521 hasConceptScore W1480649521C55493867 @default.
- W1480649521 hasConceptScore W1480649521C71924100 @default.
- W1480649521 hasIssue "4" @default.
- W1480649521 hasLocation W14806495211 @default.
- W1480649521 hasLocation W14806495212 @default.
- W1480649521 hasOpenAccess W1480649521 @default.
- W1480649521 hasPrimaryLocation W14806495211 @default.
- W1480649521 hasRelatedWork W144291426 @default.
- W1480649521 hasRelatedWork W1913107331 @default.
- W1480649521 hasRelatedWork W2045466323 @default.
- W1480649521 hasRelatedWork W2050346103 @default.
- W1480649521 hasRelatedWork W2054666203 @default.
- W1480649521 hasRelatedWork W2066898518 @default.
- W1480649521 hasRelatedWork W2169270465 @default.
- W1480649521 hasRelatedWork W2393107478 @default.
- W1480649521 hasRelatedWork W2497190853 @default.
- W1480649521 hasRelatedWork W2614590942 @default.
- W1480649521 hasVolume "24" @default.
- W1480649521 isParatext "false" @default.
- W1480649521 isRetracted "false" @default.
- W1480649521 magId "1480649521" @default.
- W1480649521 workType "article" @default.