Matches in SemOpenAlex for { <https://semopenalex.org/work/W4256166259> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W4256166259 endingPage "154" @default.
- W4256166259 startingPage "150" @default.
- W4256166259 abstract "Developments and improvements in the application of tandem mass spectrometry for newborn screening of inherited metabolic diseases using dried blood specimens have been ongoing since the initial work with fast atom bombardment ionization tandem mass spectrometry for phenylketonuria and other amino acid disorders was started in 1990. Previous work with acylcarnitine analysis of clinical samples was easily adapted and combined with the amino acid analysis such that a single analysis for both acylcarnitine and amino acid screening was accomplished. With the introduction of electrospray ionization techniques, great progress towards full automation was made resulting in a state-of-the-art, cost-effective method for diagnosis of multiple metabolic diseases in a single analytical run including phenylketonuria, maple syrup urine disease, homocystinuria, medium chain acyl-CoA dehydrogenase deficiency, as well as other disorders in amino, organic, and fatty acid metabolism. Currently, more than 1,000 samples per day are routinely analyzed in our program. Over 139 clinically significant and treatable disorders have been detected out of over 560,000 newborns screened. MRDD Research Reviews 1999;5:150–154. © 1999 Wiley-Liss, Inc." @default.
- W4256166259 created "2022-05-12" @default.
- W4256166259 creator A5014341674 @default.
- W4256166259 creator A5019587596 @default.
- W4256166259 date "1999-01-01" @default.
- W4256166259 modified "2023-09-26" @default.
- W4256166259 title "Expansion of newborn screening programs using automated tandem mass spectrometry" @default.
- W4256166259 doi "https://doi.org/10.1002/(sici)1098-2779(1999)5:2<150::aid-mrdd10>3.3.co;2-l" @default.
- W4256166259 hasPublicationYear "1999" @default.
- W4256166259 type Work @default.
- W4256166259 citedByCount "1" @default.
- W4256166259 crossrefType "journal-article" @default.
- W4256166259 hasAuthorship W4256166259A5014341674 @default.
- W4256166259 hasAuthorship W4256166259A5019587596 @default.
- W4256166259 hasConcept C126322002 @default.
- W4256166259 hasConcept C162356407 @default.
- W4256166259 hasConcept C185592680 @default.
- W4256166259 hasConcept C2776165026 @default.
- W4256166259 hasConcept C2776169613 @default.
- W4256166259 hasConcept C2776580952 @default.
- W4256166259 hasConcept C2776597655 @default.
- W4256166259 hasConcept C2778173381 @default.
- W4256166259 hasConcept C2779214519 @default.
- W4256166259 hasConcept C2779274956 @default.
- W4256166259 hasConcept C2779375456 @default.
- W4256166259 hasConcept C2780026642 @default.
- W4256166259 hasConcept C2780912031 @default.
- W4256166259 hasConcept C2781097277 @default.
- W4256166259 hasConcept C2994280701 @default.
- W4256166259 hasConcept C31827203 @default.
- W4256166259 hasConcept C40684141 @default.
- W4256166259 hasConcept C43617362 @default.
- W4256166259 hasConcept C515207424 @default.
- W4256166259 hasConcept C55493867 @default.
- W4256166259 hasConcept C71924100 @default.
- W4256166259 hasConceptScore W4256166259C126322002 @default.
- W4256166259 hasConceptScore W4256166259C162356407 @default.
- W4256166259 hasConceptScore W4256166259C185592680 @default.
- W4256166259 hasConceptScore W4256166259C2776165026 @default.
- W4256166259 hasConceptScore W4256166259C2776169613 @default.
- W4256166259 hasConceptScore W4256166259C2776580952 @default.
- W4256166259 hasConceptScore W4256166259C2776597655 @default.
- W4256166259 hasConceptScore W4256166259C2778173381 @default.
- W4256166259 hasConceptScore W4256166259C2779214519 @default.
- W4256166259 hasConceptScore W4256166259C2779274956 @default.
- W4256166259 hasConceptScore W4256166259C2779375456 @default.
- W4256166259 hasConceptScore W4256166259C2780026642 @default.
- W4256166259 hasConceptScore W4256166259C2780912031 @default.
- W4256166259 hasConceptScore W4256166259C2781097277 @default.
- W4256166259 hasConceptScore W4256166259C2994280701 @default.
- W4256166259 hasConceptScore W4256166259C31827203 @default.
- W4256166259 hasConceptScore W4256166259C40684141 @default.
- W4256166259 hasConceptScore W4256166259C43617362 @default.
- W4256166259 hasConceptScore W4256166259C515207424 @default.
- W4256166259 hasConceptScore W4256166259C55493867 @default.
- W4256166259 hasConceptScore W4256166259C71924100 @default.
- W4256166259 hasIssue "2" @default.
- W4256166259 hasLocation W42561662591 @default.
- W4256166259 hasOpenAccess W4256166259 @default.
- W4256166259 hasPrimaryLocation W42561662591 @default.
- W4256166259 hasRelatedWork W2059571244 @default.
- W4256166259 hasRelatedWork W2074159971 @default.
- W4256166259 hasRelatedWork W2408762290 @default.
- W4256166259 hasRelatedWork W2416276657 @default.
- W4256166259 hasRelatedWork W2418739604 @default.
- W4256166259 hasRelatedWork W2902656154 @default.
- W4256166259 hasRelatedWork W4205211327 @default.
- W4256166259 hasRelatedWork W4256166259 @default.
- W4256166259 hasRelatedWork W42795678 @default.
- W4256166259 hasRelatedWork W2047596153 @default.
- W4256166259 hasVolume "5" @default.
- W4256166259 isParatext "false" @default.
- W4256166259 isRetracted "false" @default.
- W4256166259 workType "article" @default.