Matches in SemOpenAlex for { <https://semopenalex.org/work/W4251861617> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W4251861617 endingPage "352" @default.
- W4251861617 startingPage "352" @default.
- W4251861617 abstract "We screened 38 G6PD-deficient male Chinese neonates for known G6PD mutations using established PCR-based techniques. We found 50.0% (19 of 38) were mutation 1376G>T, 34.2% (13 of 38) were mutation 1388G>A, 5.2% (2 of 38 ) were mutation 95A>G and 2.2% (1 of 38) was mutation 1024C>T. In 7% (3 of 38) of the cases the mutations remained uncharacterised. Sixty three percent (24 of 38) of the G6PD deficient neonates had neonatal jaundice with 28.9 % (11 of 38) developing moderate to severe hyperbilirubinemia . The group of neonates with 1388 mutation showed the highest incidence of moderate to severe hyperbilirubinemia requiring phototherapy and/or exchange transfusion respectively. Majority (70%) of the G6PD deficient neonates showed severe enzyme deficiency. However, there was no meaningful association between the level of enzyme activity and the severity of neonatal jaundice. In summary, four mutations account for more than 90% of the G6PD deficiency cases among the Chinese in Malaysia and the pattern of distribution of the molecular variants is similar to those found among the Chinese in Taiwan and southern mainland China. Our findings also suggest the possible association of nt 1388 mutation with severe neonatal jaundice. Hum Mutat 14:352, 1999. © 1999 Wiley-Liss, Inc." @default.
- W4251861617 created "2022-05-12" @default.
- W4251861617 creator A5033133694 @default.
- W4251861617 creator A5038527902 @default.
- W4251861617 creator A5050990744 @default.
- W4251861617 creator A5063042642 @default.
- W4251861617 creator A5081515430 @default.
- W4251861617 creator A5091023998 @default.
- W4251861617 date "1999-10-01" @default.
- W4251861617 modified "2023-09-25" @default.
- W4251861617 title "Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #266 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/266.pdf" @default.
- W4251861617 doi "https://doi.org/10.1002/(sici)1098-1004(199910)14:4<352::aid-humu14>3.3.co;2-7" @default.
- W4251861617 hasPublicationYear "1999" @default.
- W4251861617 type Work @default.
- W4251861617 citedByCount "1" @default.
- W4251861617 crossrefType "journal-article" @default.
- W4251861617 hasAuthorship W4251861617A5033133694 @default.
- W4251861617 hasAuthorship W4251861617A5038527902 @default.
- W4251861617 hasAuthorship W4251861617A5050990744 @default.
- W4251861617 hasAuthorship W4251861617A5063042642 @default.
- W4251861617 hasAuthorship W4251861617A5081515430 @default.
- W4251861617 hasAuthorship W4251861617A5091023998 @default.
- W4251861617 hasBestOaLocation W42518616171 @default.
- W4251861617 hasConcept C104317684 @default.
- W4251861617 hasConcept C120665830 @default.
- W4251861617 hasConcept C121332964 @default.
- W4251861617 hasConcept C126322002 @default.
- W4251861617 hasConcept C142362112 @default.
- W4251861617 hasConcept C163565370 @default.
- W4251861617 hasConcept C181199279 @default.
- W4251861617 hasConcept C187212893 @default.
- W4251861617 hasConcept C203014093 @default.
- W4251861617 hasConcept C23161992 @default.
- W4251861617 hasConcept C2776317432 @default.
- W4251861617 hasConcept C2778456037 @default.
- W4251861617 hasConcept C2779042277 @default.
- W4251861617 hasConcept C2780196906 @default.
- W4251861617 hasConcept C501734568 @default.
- W4251861617 hasConcept C52119013 @default.
- W4251861617 hasConcept C54355233 @default.
- W4251861617 hasConcept C554144382 @default.
- W4251861617 hasConcept C55493867 @default.
- W4251861617 hasConcept C61511704 @default.
- W4251861617 hasConcept C71924100 @default.
- W4251861617 hasConcept C86803240 @default.
- W4251861617 hasConcept C90924648 @default.
- W4251861617 hasConceptScore W4251861617C104317684 @default.
- W4251861617 hasConceptScore W4251861617C120665830 @default.
- W4251861617 hasConceptScore W4251861617C121332964 @default.
- W4251861617 hasConceptScore W4251861617C126322002 @default.
- W4251861617 hasConceptScore W4251861617C142362112 @default.
- W4251861617 hasConceptScore W4251861617C163565370 @default.
- W4251861617 hasConceptScore W4251861617C181199279 @default.
- W4251861617 hasConceptScore W4251861617C187212893 @default.
- W4251861617 hasConceptScore W4251861617C203014093 @default.
- W4251861617 hasConceptScore W4251861617C23161992 @default.
- W4251861617 hasConceptScore W4251861617C2776317432 @default.
- W4251861617 hasConceptScore W4251861617C2778456037 @default.
- W4251861617 hasConceptScore W4251861617C2779042277 @default.
- W4251861617 hasConceptScore W4251861617C2780196906 @default.
- W4251861617 hasConceptScore W4251861617C501734568 @default.
- W4251861617 hasConceptScore W4251861617C52119013 @default.
- W4251861617 hasConceptScore W4251861617C54355233 @default.
- W4251861617 hasConceptScore W4251861617C554144382 @default.
- W4251861617 hasConceptScore W4251861617C55493867 @default.
- W4251861617 hasConceptScore W4251861617C61511704 @default.
- W4251861617 hasConceptScore W4251861617C71924100 @default.
- W4251861617 hasConceptScore W4251861617C86803240 @default.
- W4251861617 hasConceptScore W4251861617C90924648 @default.
- W4251861617 hasIssue "4" @default.
- W4251861617 hasLocation W42518616171 @default.
- W4251861617 hasOpenAccess W4251861617 @default.
- W4251861617 hasPrimaryLocation W42518616171 @default.
- W4251861617 hasRelatedWork W2051841928 @default.
- W4251861617 hasRelatedWork W2059218813 @default.
- W4251861617 hasRelatedWork W2361921133 @default.
- W4251861617 hasRelatedWork W2397077353 @default.
- W4251861617 hasRelatedWork W2416974182 @default.
- W4251861617 hasRelatedWork W2992362684 @default.
- W4251861617 hasRelatedWork W3119211036 @default.
- W4251861617 hasRelatedWork W4233855822 @default.
- W4251861617 hasRelatedWork W4251861617 @default.
- W4251861617 hasRelatedWork W2626048882 @default.
- W4251861617 hasVolume "14" @default.
- W4251861617 isParatext "false" @default.
- W4251861617 isRetracted "false" @default.
- W4251861617 workType "article" @default.