P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423000419 |
| _version_ | 1797342089606856704 |
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| author | Neal Cody Yu Leng Phua Wenjiao Li Irina Nazarenko Brandon Stauffer Hongjie Chen Jing Xiao Lisa Edelmann Ruth Kornreich Chunli Yu Robert Desnick |
| author_facet | Neal Cody Yu Leng Phua Wenjiao Li Irina Nazarenko Brandon Stauffer Hongjie Chen Jing Xiao Lisa Edelmann Ruth Kornreich Chunli Yu Robert Desnick |
| author_sort | Neal Cody |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:28:22Z |
| format | Article |
| id | doaj.art-37d74187c512483592401afa96cb6ea3 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:28:22Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-37d74187c512483592401afa96cb6ea32024-01-27T07:03:47ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100041P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levelsNeal Cody0Yu Leng Phua1Wenjiao Li2Irina Nazarenko3Brandon Stauffer4Hongjie Chen5Jing Xiao6Lisa Edelmann7Ruth Kornreich8Chunli Yu9Robert Desnick10Icahn School of Medicine at Mount Sinai, Sema4Icahn School of Medicine at Mount Sinai, Sema4Icahn School of Medicine at Mount Sinai, Sema4Sema4Sema4Sema4Sema4Icahn School of Medicine at Mount Sinai, Sema4Sema4Icahn School of Medicine at Mount Sinai, Sema4Icahn School of Medicine at Mount Sinai, Sema4http://www.sciencedirect.com/science/article/pii/S2949774423000419 |
| spellingShingle | Neal Cody Yu Leng Phua Wenjiao Li Irina Nazarenko Brandon Stauffer Hongjie Chen Jing Xiao Lisa Edelmann Ruth Kornreich Chunli Yu Robert Desnick P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels Genetics in Medicine Open |
| title | P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels |
| title_full | P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels |
| title_fullStr | P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels |
| title_full_unstemmed | P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels |
| title_short | P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels |
| title_sort | p031 fabry disease genotype phenotype correlations for 17 novel gla mutations by gla activity and plasma lyso gb3 levels |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423000419 |
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