FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1805692502> ?p ?o ?g. }

• W1805692502 endingPage "659" @default.
• W1805692502 startingPage "652" @default.
• W1805692502 abstract "Maple syrup urine disease (MSUD) is a rare metabolic disorder for which the newborn screening (NBS) is possible but it has not been yet implemented for most Spanish regions. In the present study, we assess the clinical features and outcome of 14 MSUD Spanish patients with similar treatment protocol diagnosed either by NBS or by clinical symptoms. Eight patients were detected by NBS, four classic and four moderate MSUD. The average age at detection was 4.6 days, the mean plasmatic concentration of leucine at diagnosis was 1807 μM; the average number of days with leucine >1000 μM was 0.7 (0-4) and the mean number of total hospitalizations was 1.6 (0-5). Mean follow-up time was 70 months. They had good evolution: all remain asymptomatic, but 2 patients have attention deficit and hyperactivity disorder. Six patients with late diagnosis of classic MSUD were followed during 41 months. All presented with acute encephalopathy during the first month of life, mean leucine levels of 2355 μM, mean number of days with leucine >1000 μM of 6.6 (1-13) and mean number of total hospitalizations of 5.3 (4-7). Only two patients have a psychomotor development index in the lower limit (80 and 83). For all patients a good genotype-phenotype correlation was found and four novel mutations were identified: p.A311H, p.T84S, p.T397L, pL398P. Our study support that NBS improves prognosis of MSUD patients. But early diagnosis and an aggressive treatment together with a close monitoring of leucine levels improve neurological evolution in MSUD patients, even for those not detected by NBS." @default.
• W1805692502 created "2016-06-24" @default.
• W1805692502 creator A5009588281 @default.
• W1805692502 creator A5026554876 @default.
• W1805692502 creator A5028611847 @default.
• W1805692502 creator A5046050135 @default.
• W1805692502 creator A5052998706 @default.
• W1805692502 creator A5066412218 @default.
• W1805692502 creator A5077551140 @default.
• W1805692502 creator A5086531715 @default.
• W1805692502 date "2015-11-01" @default.
• W1805692502 modified "2023-09-23" @default.
• W1805692502 title "Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis" @default.
• W1805692502 cites W142710206 @default.
• W1805692502 cites W1563347537 @default.
• W1805692502 cites W1930183105 @default.
• W1805692502 cites W1979096090 @default.
• W1805692502 cites W1986303087 @default.
• W1805692502 cites W1987311755 @default.
• W1805692502 cites W1989798945 @default.
• W1805692502 cites W1998920564 @default.
• W1805692502 cites W2000053693 @default.
• W1805692502 cites W2002082269 @default.
• W1805692502 cites W2003860356 @default.
• W1805692502 cites W2003926893 @default.
• W1805692502 cites W2007646383 @default.
• W1805692502 cites W2010808914 @default.
• W1805692502 cites W2012266975 @default.
• W1805692502 cites W2021485399 @default.
• W1805692502 cites W2028164536 @default.
• W1805692502 cites W2029467229 @default.
• W1805692502 cites W2030524440 @default.
• W1805692502 cites W2037178468 @default.
• W1805692502 cites W2037626570 @default.
• W1805692502 cites W2042530488 @default.
• W1805692502 cites W2067028024 @default.
• W1805692502 cites W2081412228 @default.
• W1805692502 cites W2091962258 @default.
• W1805692502 cites W2092313609 @default.
• W1805692502 cites W2094170633 @default.
• W1805692502 cites W2117604286 @default.
• W1805692502 cites W2118229287 @default.
• W1805692502 cites W2119203984 @default.
• W1805692502 cites W2159310030 @default.
• W1805692502 cites W2161547880 @default.
• W1805692502 cites W2166078809 @default.
• W1805692502 cites W2168520509 @default.
• W1805692502 doi "https://doi.org/10.1016/j.ejpn.2015.07.009" @default.
• W1805692502 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26232051" @default.
• W1805692502 hasPublicationYear "2015" @default.
• W1805692502 type Work @default.
• W1805692502 sameAs 1805692502 @default.
• W1805692502 citedByCount "30" @default.
• W1805692502 countsByYear W18056925022016 @default.
• W1805692502 countsByYear W18056925022017 @default.
• W1805692502 countsByYear W18056925022018 @default.
• W1805692502 countsByYear W18056925022019 @default.
• W1805692502 countsByYear W18056925022020 @default.
• W1805692502 countsByYear W18056925022021 @default.
• W1805692502 countsByYear W18056925022022 @default.
• W1805692502 countsByYear W18056925022023 @default.
• W1805692502 crossrefType "journal-article" @default.
• W1805692502 hasAuthorship W1805692502A5009588281 @default.
• W1805692502 hasAuthorship W1805692502A5026554876 @default.
• W1805692502 hasAuthorship W1805692502A5028611847 @default.
• W1805692502 hasAuthorship W1805692502A5046050135 @default.
• W1805692502 hasAuthorship W1805692502A5052998706 @default.
• W1805692502 hasAuthorship W1805692502A5066412218 @default.
• W1805692502 hasAuthorship W1805692502A5077551140 @default.
• W1805692502 hasAuthorship W1805692502A5086531715 @default.
• W1805692502 hasConcept C126322002 @default.
• W1805692502 hasConcept C187212893 @default.
• W1805692502 hasConcept C2776169613 @default.
• W1805692502 hasConcept C2776580952 @default.
• W1805692502 hasConcept C2777910003 @default.
• W1805692502 hasConcept C2779214519 @default.
• W1805692502 hasConcept C2780026642 @default.
• W1805692502 hasConcept C515207424 @default.
• W1805692502 hasConcept C55493867 @default.
• W1805692502 hasConcept C71924100 @default.
• W1805692502 hasConcept C86803240 @default.
• W1805692502 hasConcept C90924648 @default.
• W1805692502 hasConceptScore W1805692502C126322002 @default.
• W1805692502 hasConceptScore W1805692502C187212893 @default.
• W1805692502 hasConceptScore W1805692502C2776169613 @default.
• W1805692502 hasConceptScore W1805692502C2776580952 @default.
• W1805692502 hasConceptScore W1805692502C2777910003 @default.
• W1805692502 hasConceptScore W1805692502C2779214519 @default.
• W1805692502 hasConceptScore W1805692502C2780026642 @default.
• W1805692502 hasConceptScore W1805692502C515207424 @default.
• W1805692502 hasConceptScore W1805692502C55493867 @default.
• W1805692502 hasConceptScore W1805692502C71924100 @default.
• W1805692502 hasConceptScore W1805692502C86803240 @default.
• W1805692502 hasConceptScore W1805692502C90924648 @default.
• W1805692502 hasIssue "6" @default.
• W1805692502 hasLocation W18056925021 @default.
• W1805692502 hasLocation W18056925022 @default.
• W1805692502 hasOpenAccess W1805692502 @default.

• next