FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014331369> ?p ?o ?g. }

• W2014331369 endingPage "172" @default.
• W2014331369 startingPage "172" @default.
• W2014331369 abstract "To the Editor: Ficicioglu et al reported the first infant with very long chain acyl-CoA dehydrogenase deficiency (VLCADD) not detected by newborn screening performed within the ideal time frame. The experience of the New England Newborn Screening Program (NENSP) extends the number of VLCADD cases with a false-negative result and suggests that common interventions used in neonatal units might contribute to such errors. The initial specimen, collected from the infant on day of life (DOL)-2 (weight, 2420 g; gestational age, 34 weeks), screened normal. The values of VLCADD-specific markers C14:1 (0.34 mM) and C14:2 (0.12 mM) were below the NENSP cutoffs (0.70 mM and 0.17 mM, respectively), as well as the cutoffs of most other programs worldwide. A second specimen obtained on discharge from the special care nursery on DOL-9 was suggestive of VLCADD (C14:1, 0.82 mM; C14:2, 0.27 mM). A review of data for the initial specimen revealed that althoughmarkers were normal, the discriminator indices used by the NENSP to reflect a VLCADD profile when primary markers are abnormal were above their cutoffs. VLCADD was subsequently confirmed by diagnostic plasma acylcarnitine profiles and the detection of two pathogenic mutations on the VLCADD gene, 684G>A (A232T) and 848T>C (V283A). This neonate’s clinical history was notable for prematurity and initial poor oral intake, necessitating a hospital stay, but was otherwise unremarkable. The neonate received 10% dextrose intravenously from DOL-1 to DOL-5 and was then transitioned to oral feeds. We feel that dextrose, by suppressing fatty acid oxidation, might have masked the characteristic acylcarnitine accumulation. Our case underscores the fact that screening may fail to identify VLCADD and other disorders, especially in neonates receiving therapeutic interventions. Routine rescreening of such neonates at discharge in addition to the initial screen, even when the initial screen is normal, and analysis of biomarker profiles regardless of primary marker concentrations might reduce the risk of missing infants with these disorders." @default.
• W2014331369 created "2016-06-24" @default.
• W2014331369 creator A5017768107 @default.
• W2014331369 creator A5041524263 @default.
• W2014331369 creator A5051196199 @default.
• W2014331369 creator A5056922384 @default.
• W2014331369 creator A5069085850 @default.
• W2014331369 date "2011-01-01" @default.
• W2014331369 modified "2023-10-16" @default.
• W2014331369 title "A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen" @default.
• W2014331369 cites W2044937417 @default.
• W2014331369 doi "https://doi.org/10.1016/j.jpeds.2010.09.026" @default.
• W2014331369 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21074171" @default.
• W2014331369 hasPublicationYear "2011" @default.
• W2014331369 type Work @default.
• W2014331369 sameAs 2014331369 @default.
• W2014331369 citedByCount "13" @default.
• W2014331369 countsByYear W20143313692012 @default.
• W2014331369 countsByYear W20143313692013 @default.
• W2014331369 countsByYear W20143313692014 @default.
• W2014331369 countsByYear W20143313692016 @default.
• W2014331369 countsByYear W20143313692018 @default.
• W2014331369 countsByYear W20143313692019 @default.
• W2014331369 countsByYear W20143313692020 @default.
• W2014331369 countsByYear W20143313692022 @default.
• W2014331369 crossrefType "journal-article" @default.
• W2014331369 hasAuthorship W2014331369A5017768107 @default.
• W2014331369 hasAuthorship W2014331369A5041524263 @default.
• W2014331369 hasAuthorship W2014331369A5051196199 @default.
• W2014331369 hasAuthorship W2014331369A5056922384 @default.
• W2014331369 hasAuthorship W2014331369A5069085850 @default.
• W2014331369 hasConcept C121332964 @default.
• W2014331369 hasConcept C1276947 @default.
• W2014331369 hasConcept C181199279 @default.
• W2014331369 hasConcept C185592680 @default.
• W2014331369 hasConcept C187212893 @default.
• W2014331369 hasConcept C2776169613 @default.
• W2014331369 hasConcept C2776317432 @default.
• W2014331369 hasConcept C2776897722 @default.
• W2014331369 hasConcept C2777977315 @default.
• W2014331369 hasConcept C55493867 @default.
• W2014331369 hasConcept C71924100 @default.
• W2014331369 hasConceptScore W2014331369C121332964 @default.
• W2014331369 hasConceptScore W2014331369C1276947 @default.
• W2014331369 hasConceptScore W2014331369C181199279 @default.
• W2014331369 hasConceptScore W2014331369C185592680 @default.
• W2014331369 hasConceptScore W2014331369C187212893 @default.
• W2014331369 hasConceptScore W2014331369C2776169613 @default.
• W2014331369 hasConceptScore W2014331369C2776317432 @default.
• W2014331369 hasConceptScore W2014331369C2776897722 @default.
• W2014331369 hasConceptScore W2014331369C2777977315 @default.
• W2014331369 hasConceptScore W2014331369C55493867 @default.
• W2014331369 hasConceptScore W2014331369C71924100 @default.
• W2014331369 hasIssue "1" @default.
• W2014331369 hasLocation W20143313691 @default.
• W2014331369 hasLocation W20143313692 @default.
• W2014331369 hasOpenAccess W2014331369 @default.
• W2014331369 hasPrimaryLocation W20143313691 @default.
• W2014331369 hasRelatedWork W1990160115 @default.
• W2014331369 hasRelatedWork W2001656842 @default.
• W2014331369 hasRelatedWork W2022609182 @default.
• W2014331369 hasRelatedWork W2044937417 @default.
• W2014331369 hasRelatedWork W2085540039 @default.
• W2014331369 hasRelatedWork W2103171313 @default.
• W2014331369 hasRelatedWork W2123763668 @default.
• W2014331369 hasRelatedWork W2142137469 @default.
• W2014331369 hasRelatedWork W2374650868 @default.
• W2014331369 hasRelatedWork W3217621814 @default.
• W2014331369 hasVolume "158" @default.
• W2014331369 isParatext "false" @default.
• W2014331369 isRetracted "false" @default.
• W2014331369 magId "2014331369" @default.
• W2014331369 workType "article" @default.