FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2767156955> ?p ?o ?g. }

• W2767156955 abstract "Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977–2007. In Sanfilippo syndrome type A mean age at death (± standard deviation) was 15.22 ± 4.22 years, 18.91 ± 7.33 years for patients with Sanfilippo syndrome type B and 23.43 ± 9.47 years in Sanfilippo syndrome type C. Patients with Sanfilippo syndrome type A showed significant increase in longevity over the period of observation (p = 0.012). Survival rates of patients with Sanfilippo syndrome type B did not show a statistically significant improvement (p = 0.134). In Sanfilippo syndrome types A and B, pneumonia was identified as the leading cause of death. The analysis of 113 death certificates of patients with Sanfilippo syndrome in the UK has demonstrated that the longevity has improved significantly in patients with Sanfilippo syndrome type A over a last few decades. The numbers of patients with Sanfilippo syndrome types B and C were too small to identify any significant trend changes for these groups. Respiratory tract infections, notably pneumonia, remain the leading cause of mortality in Sanfilippo syndrome types A and B. The extended lifespans of patients with Sanfilippo syndrome type A were achieved despite the lack of therapies to target the primary insult or pathophysiology of the disease. However, the mean age at death of these patients remains low when compared with the general population. Therefore, there is an urgent need for effective disease-specific therapies to be developed so that the quality of life and survival of patients with Sanfilippo syndrome can be improved." @default.
• W2767156955 created "2017-11-10" @default.
• W2767156955 creator A5030738571 @default.
• W2767156955 creator A5058641127 @default.
• W2767156955 creator A5080899318 @default.
• W2767156955 date "2017-10-23" @default.
• W2767156955 modified "2023-10-16" @default.
• W2767156955 title "Mortality in patients with Sanfilippo syndrome" @default.
• W2767156955 cites W1488537517 @default.
• W2767156955 cites W1603932632 @default.
• W2767156955 cites W1604613811 @default.
• W2767156955 cites W1839667336 @default.
• W2767156955 cites W1968516199 @default.
• W2767156955 cites W1983941630 @default.
• W2767156955 cites W1995334926 @default.
• W2767156955 cites W2011598025 @default.
• W2767156955 cites W2015441395 @default.
• W2767156955 cites W2048121435 @default.
• W2767156955 cites W2050557934 @default.
• W2767156955 cites W2067429146 @default.
• W2767156955 cites W2075219974 @default.
• W2767156955 cites W2080268231 @default.
• W2767156955 cites W2082548895 @default.
• W2767156955 cites W2084103627 @default.
• W2767156955 cites W2094355363 @default.
• W2767156955 cites W2095409487 @default.
• W2767156955 cites W2096542653 @default.
• W2767156955 cites W2105688742 @default.
• W2767156955 cites W2114165048 @default.
• W2767156955 cites W2116572569 @default.
• W2767156955 cites W2118584521 @default.
• W2767156955 cites W2135756318 @default.
• W2767156955 cites W2141904817 @default.
• W2767156955 cites W2144465082 @default.
• W2767156955 cites W2148482679 @default.
• W2767156955 cites W2151463239 @default.
• W2767156955 cites W2162382165 @default.
• W2767156955 cites W2163220775 @default.
• W2767156955 cites W2168453491 @default.
• W2767156955 cites W2179366637 @default.
• W2767156955 cites W2190991012 @default.
• W2767156955 cites W2267901974 @default.
• W2767156955 cites W2393713187 @default.
• W2767156955 cites W2415339601 @default.
• W2767156955 doi "https://doi.org/10.1186/s13023-017-0717-y" @default.
• W2767156955 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5654004" @default.
• W2767156955 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29061114" @default.
• W2767156955 hasPublicationYear "2017" @default.
• W2767156955 type Work @default.
• W2767156955 sameAs 2767156955 @default.
• W2767156955 citedByCount "49" @default.
• W2767156955 countsByYear W27671569552017 @default.
• W2767156955 countsByYear W27671569552018 @default.
• W2767156955 countsByYear W27671569552019 @default.
• W2767156955 countsByYear W27671569552020 @default.
• W2767156955 countsByYear W27671569552021 @default.
• W2767156955 countsByYear W27671569552022 @default.
• W2767156955 countsByYear W27671569552023 @default.
• W2767156955 crossrefType "journal-article" @default.
• W2767156955 hasAuthorship W2767156955A5030738571 @default.
• W2767156955 hasAuthorship W2767156955A5058641127 @default.
• W2767156955 hasAuthorship W2767156955A5080899318 @default.
• W2767156955 hasBestOaLocation W27671569551 @default.
• W2767156955 hasConcept C126322002 @default.
• W2767156955 hasConcept C187212893 @default.
• W2767156955 hasConcept C2777914695 @default.
• W2767156955 hasConcept C2779134260 @default.
• W2767156955 hasConcept C2779416428 @default.
• W2767156955 hasConcept C29374701 @default.
• W2767156955 hasConcept C42407357 @default.
• W2767156955 hasConcept C71924100 @default.
• W2767156955 hasConcept C90924648 @default.
• W2767156955 hasConceptScore W2767156955C126322002 @default.
• W2767156955 hasConceptScore W2767156955C187212893 @default.
• W2767156955 hasConceptScore W2767156955C2777914695 @default.
• W2767156955 hasConceptScore W2767156955C2779134260 @default.
• W2767156955 hasConceptScore W2767156955C2779416428 @default.
• W2767156955 hasConceptScore W2767156955C29374701 @default.
• W2767156955 hasConceptScore W2767156955C42407357 @default.
• W2767156955 hasConceptScore W2767156955C71924100 @default.
• W2767156955 hasConceptScore W2767156955C90924648 @default.
• W2767156955 hasIssue "1" @default.
• W2767156955 hasLocation W27671569551 @default.
• W2767156955 hasLocation W27671569552 @default.
• W2767156955 hasLocation W27671569553 @default.
• W2767156955 hasLocation W27671569554 @default.
• W2767156955 hasLocation W27671569555 @default.
• W2767156955 hasOpenAccess W2767156955 @default.
• W2767156955 hasPrimaryLocation W27671569551 @default.
• W2767156955 hasRelatedWork W1534352139 @default.
• W2767156955 hasRelatedWork W1970715106 @default.
• W2767156955 hasRelatedWork W1985238104 @default.
• W2767156955 hasRelatedWork W2018222346 @default.
• W2767156955 hasRelatedWork W2079129069 @default.
• W2767156955 hasRelatedWork W2144432411 @default.
• W2767156955 hasRelatedWork W2287905725 @default.
• W2767156955 hasRelatedWork W2735406295 @default.
• W2767156955 hasRelatedWork W4300505680 @default.
• W2767156955 hasRelatedWork W4306743302 @default.
• W2767156955 hasVolume "12" @default.

• next