Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings
| Main Authors: | , , , , , |
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| Format: | Conference or Workshop Item |
| Language: | English |
| Published: |
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/116511/ http://psasir.upm.edu.my/id/eprint/116511/1/116511.pdf |
| _version_ | 1848867021419184128 |
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| author | Karuppiah, Thilakavathy Ling, King Hwa Lim, Chong Teik Shankar, Aissvarya Thong, Meow Keong Abdul Aziz, Noraishah Mydin |
| author_facet | Karuppiah, Thilakavathy Ling, King Hwa Lim, Chong Teik Shankar, Aissvarya Thong, Meow Keong Abdul Aziz, Noraishah Mydin |
| author_sort | Karuppiah, Thilakavathy |
| building | UPM Institutional Repository |
| collection | Online Access |
| first_indexed | 2025-11-15T14:29:52Z |
| format | Conference or Workshop Item |
| id | upm-116511 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T14:29:52Z |
| publishDate | 2024 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-1165112025-04-09T07:22:37Z http://psasir.upm.edu.my/id/eprint/116511/ Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings Karuppiah, Thilakavathy Ling, King Hwa Lim, Chong Teik Shankar, Aissvarya Thong, Meow Keong Abdul Aziz, Noraishah Mydin 2024 Conference or Workshop Item NonPeerReviewed text en http://psasir.upm.edu.my/id/eprint/116511/1/116511.pdf Karuppiah, Thilakavathy and Ling, King Hwa and Lim, Chong Teik and Shankar, Aissvarya and Thong, Meow Keong and Abdul Aziz, Noraishah Mydin (2024) Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings. In: 1st International Symposium and Workshop, Medical Genetics Update: From Genomics to Clinic, 16-18 May. 2024, Universitas YARSI, Indonesia. (pp. 98-99). (Submitted) |
| spellingShingle | Karuppiah, Thilakavathy Ling, King Hwa Lim, Chong Teik Shankar, Aissvarya Thong, Meow Keong Abdul Aziz, Noraishah Mydin Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title | Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title_full | Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title_fullStr | Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title_full_unstemmed | Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title_short | Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings |
| title_sort | biallelic variants in glb1 causes gm1-gangliosidosis disease in a family with two siblings |
| url | http://psasir.upm.edu.my/id/eprint/116511/ http://psasir.upm.edu.my/id/eprint/116511/1/116511.pdf |