Matches in SemOpenAlex for { <https://semopenalex.org/work/W3108328342> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W3108328342 abstract "Abstract Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes." @default.
- W3108328342 created "2020-12-07" @default.
- W3108328342 creator A5031161367 @default.
- W3108328342 creator A5048540142 @default.
- W3108328342 date "2020-01-01" @default.
- W3108328342 modified "2023-10-18" @default.
- W3108328342 title "Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children" @default.
- W3108328342 cites W1240226326 @default.
- W3108328342 cites W1509417752 @default.
- W3108328342 cites W1965728904 @default.
- W3108328342 cites W1968362921 @default.
- W3108328342 cites W2005613247 @default.
- W3108328342 cites W2007348345 @default.
- W3108328342 cites W2034300416 @default.
- W3108328342 cites W2039001847 @default.
- W3108328342 cites W2072026209 @default.
- W3108328342 cites W2077531458 @default.
- W3108328342 cites W2077868231 @default.
- W3108328342 cites W2086181705 @default.
- W3108328342 cites W2100395294 @default.
- W3108328342 cites W2134475152 @default.
- W3108328342 cites W2161236662 @default.
- W3108328342 cites W2162578022 @default.
- W3108328342 cites W2254338428 @default.
- W3108328342 cites W2401463828 @default.
- W3108328342 cites W2521374433 @default.
- W3108328342 cites W2538993809 @default.
- W3108328342 cites W2585501909 @default.
- W3108328342 cites W2810645964 @default.
- W3108328342 cites W4231775631 @default.
- W3108328342 cites W4240242963 @default.
- W3108328342 doi "https://doi.org/10.1055/s-0040-1720956" @default.
- W3108328342 hasPublicationYear "2020" @default.
- W3108328342 type Work @default.
- W3108328342 sameAs 3108328342 @default.
- W3108328342 citedByCount "0" @default.
- W3108328342 crossrefType "journal-article" @default.
- W3108328342 hasAuthorship W3108328342A5031161367 @default.
- W3108328342 hasAuthorship W3108328342A5048540142 @default.
- W3108328342 hasBestOaLocation W31083283421 @default.
- W3108328342 hasConcept C104317684 @default.
- W3108328342 hasConcept C126322002 @default.
- W3108328342 hasConcept C180754005 @default.
- W3108328342 hasConcept C187212893 @default.
- W3108328342 hasConcept C2779134260 @default.
- W3108328342 hasConcept C2780674200 @default.
- W3108328342 hasConcept C2908647359 @default.
- W3108328342 hasConcept C49105822 @default.
- W3108328342 hasConcept C501734568 @default.
- W3108328342 hasConcept C54355233 @default.
- W3108328342 hasConcept C61470247 @default.
- W3108328342 hasConcept C71924100 @default.
- W3108328342 hasConcept C86803240 @default.
- W3108328342 hasConcept C90924648 @default.
- W3108328342 hasConcept C99454951 @default.
- W3108328342 hasConceptScore W3108328342C104317684 @default.
- W3108328342 hasConceptScore W3108328342C126322002 @default.
- W3108328342 hasConceptScore W3108328342C180754005 @default.
- W3108328342 hasConceptScore W3108328342C187212893 @default.
- W3108328342 hasConceptScore W3108328342C2779134260 @default.
- W3108328342 hasConceptScore W3108328342C2780674200 @default.
- W3108328342 hasConceptScore W3108328342C2908647359 @default.
- W3108328342 hasConceptScore W3108328342C49105822 @default.
- W3108328342 hasConceptScore W3108328342C501734568 @default.
- W3108328342 hasConceptScore W3108328342C54355233 @default.
- W3108328342 hasConceptScore W3108328342C61470247 @default.
- W3108328342 hasConceptScore W3108328342C71924100 @default.
- W3108328342 hasConceptScore W3108328342C86803240 @default.
- W3108328342 hasConceptScore W3108328342C90924648 @default.
- W3108328342 hasConceptScore W3108328342C99454951 @default.
- W3108328342 hasLocation W31083283421 @default.
- W3108328342 hasOpenAccess W3108328342 @default.
- W3108328342 hasPrimaryLocation W31083283421 @default.
- W3108328342 hasRelatedWork W11283106 @default.
- W3108328342 hasRelatedWork W11417411 @default.
- W3108328342 hasRelatedWork W12145150 @default.
- W3108328342 hasRelatedWork W13870451 @default.
- W3108328342 hasRelatedWork W16383444 @default.
- W3108328342 hasRelatedWork W19979574 @default.
- W3108328342 hasRelatedWork W4376109 @default.
- W3108328342 hasRelatedWork W4831360 @default.
- W3108328342 hasRelatedWork W5188681 @default.
- W3108328342 hasRelatedWork W8315944 @default.
- W3108328342 isParatext "false" @default.
- W3108328342 isRetracted "false" @default.
- W3108328342 magId "3108328342" @default.
- W3108328342 workType "article" @default.