FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311377013> ?p ?o ?g. }

• W4311377013 endingPage "242" @default.
• W4311377013 startingPage "232" @default.
• W4311377013 abstract "Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose-1-phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it from becoming universal. In order to develop the Israeli newborn screening pilot algorithm for galactosemia, flow injection analysis tandem mass spectrometry measurement of galactose-1-phosphate in archived dried blood spots from newborns with classical galactosemia, galactosemia variants, epimerase deficiency, and normal controls, was conducted. Out of 431 330 newborns screened during the pilot study (30 months), two with classical galactosemia and four with epimerase deficiency were identified and confirmed. Five false positives and no false negatives were recorded. Following this pilot study, the Israeli final and routine newborn screening algorithm, as recommended by the Advisory Committee to the National Newborn Screening Program, now consists of galactose-1-phosphate measurement integrated into the routine tandem mass spectrometry panel as the first-tier screening test, and GALT enzyme activity as the second-tier performed to identify only newborns suspected to be at risk for classical galactosemia. The GALT enzyme activity cut-off used in the final algorithm was lowered in order to avoid false positives." @default.
• W4311377013 created "2022-12-25" @default.
• W4311377013 creator A5002218705 @default.
• W4311377013 creator A5003315642 @default.
• W4311377013 creator A5014759439 @default.
• W4311377013 creator A5017507485 @default.
• W4311377013 creator A5017756474 @default.
• W4311377013 creator A5019162844 @default.
• W4311377013 creator A5022090276 @default.
• W4311377013 creator A5023371777 @default.
• W4311377013 creator A5024645067 @default.
• W4311377013 creator A5025522023 @default.
• W4311377013 creator A5027698632 @default.
• W4311377013 creator A5031857567 @default.
• W4311377013 creator A5032863194 @default.
• W4311377013 creator A5035327119 @default.
• W4311377013 creator A5040581775 @default.
• W4311377013 creator A5044093235 @default.
• W4311377013 creator A5045271271 @default.
• W4311377013 creator A5046628932 @default.
• W4311377013 creator A5049542080 @default.
• W4311377013 creator A5049907942 @default.
• W4311377013 creator A5053946864 @default.
• W4311377013 creator A5063656718 @default.
• W4311377013 creator A5068825956 @default.
• W4311377013 creator A5069112208 @default.
• W4311377013 creator A5069499376 @default.
• W4311377013 creator A5071035663 @default.
• W4311377013 creator A5082559865 @default.
• W4311377013 creator A5083846910 @default.
• W4311377013 creator A5088761709 @default.
• W4311377013 date "2022-12-20" @default.
• W4311377013 modified "2023-09-27" @default.
• W4311377013 title "Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia" @default.
• W4311377013 cites W1493277429 @default.
• W4311377013 cites W1498262441 @default.
• W4311377013 cites W1561815986 @default.
• W4311377013 cites W1599056620 @default.
• W4311377013 cites W1997806701 @default.
• W4311377013 cites W2006120866 @default.
• W4311377013 cites W2036190266 @default.
• W4311377013 cites W2092645896 @default.
• W4311377013 cites W2097016963 @default.
• W4311377013 cites W2101455704 @default.
• W4311377013 cites W2137000073 @default.
• W4311377013 cites W2159034742 @default.
• W4311377013 cites W2339614918 @default.
• W4311377013 cites W2399997720 @default.
• W4311377013 cites W2487929589 @default.
• W4311377013 cites W2570139068 @default.
• W4311377013 cites W2626881021 @default.
• W4311377013 cites W2889561989 @default.
• W4311377013 cites W2942520404 @default.
• W4311377013 cites W2945454818 @default.
• W4311377013 cites W3134540784 @default.
• W4311377013 cites W3211042927 @default.
• W4311377013 cites W4285023888 @default.
• W4311377013 doi "https://doi.org/10.1002/jimd.12580" @default.
• W4311377013 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36515074" @default.
• W4311377013 hasPublicationYear "2022" @default.
• W4311377013 type Work @default.
• W4311377013 citedByCount "0" @default.
• W4311377013 crossrefType "journal-article" @default.
• W4311377013 hasAuthorship W4311377013A5002218705 @default.
• W4311377013 hasAuthorship W4311377013A5003315642 @default.
• W4311377013 hasAuthorship W4311377013A5014759439 @default.
• W4311377013 hasAuthorship W4311377013A5017507485 @default.
• W4311377013 hasAuthorship W4311377013A5017756474 @default.
• W4311377013 hasAuthorship W4311377013A5019162844 @default.
• W4311377013 hasAuthorship W4311377013A5022090276 @default.
• W4311377013 hasAuthorship W4311377013A5023371777 @default.
• W4311377013 hasAuthorship W4311377013A5024645067 @default.
• W4311377013 hasAuthorship W4311377013A5025522023 @default.
• W4311377013 hasAuthorship W4311377013A5027698632 @default.
• W4311377013 hasAuthorship W4311377013A5031857567 @default.
• W4311377013 hasAuthorship W4311377013A5032863194 @default.
• W4311377013 hasAuthorship W4311377013A5035327119 @default.
• W4311377013 hasAuthorship W4311377013A5040581775 @default.
• W4311377013 hasAuthorship W4311377013A5044093235 @default.
• W4311377013 hasAuthorship W4311377013A5045271271 @default.
• W4311377013 hasAuthorship W4311377013A5046628932 @default.
• W4311377013 hasAuthorship W4311377013A5049542080 @default.
• W4311377013 hasAuthorship W4311377013A5049907942 @default.
• W4311377013 hasAuthorship W4311377013A5053946864 @default.
• W4311377013 hasAuthorship W4311377013A5063656718 @default.
• W4311377013 hasAuthorship W4311377013A5068825956 @default.
• W4311377013 hasAuthorship W4311377013A5069112208 @default.
• W4311377013 hasAuthorship W4311377013A5069499376 @default.
• W4311377013 hasAuthorship W4311377013A5071035663 @default.
• W4311377013 hasAuthorship W4311377013A5082559865 @default.
• W4311377013 hasAuthorship W4311377013A5083846910 @default.
• W4311377013 hasAuthorship W4311377013A5088761709 @default.
• W4311377013 hasConcept C119857082 @default.
• W4311377013 hasConcept C126322002 @default.
• W4311377013 hasConcept C134018914 @default.
• W4311377013 hasConcept C162356407 @default.
• W4311377013 hasConcept C185592680 @default.
• W4311377013 hasConcept C187212893 @default.

• next