Article ; Online: An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant.
2024 Volume 117, Page(s) 161–163
MeSH term(s) | Humans ; Phosphoglycerate Kinase/genetics ; Phosphoglycerate Kinase/deficiency ; Male ; Joint Instability/genetics ; Female ; Spinal Diseases/genetics ; Metabolism, Inborn Errors ; Genetic Diseases, X-Linked |
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Chemical Substances | Phosphoglycerate Kinase (EC 2.7.2.3) ; PGK1 protein, human (EC 2.7.2.3) |
Language | English |
Publishing date | 2024-02-20 |
Publishing country | England |
Document type | Case Reports ; Letter ; Journal Article |
ZDB-ID | 1137610-7 |
ISSN | 1532-2688 ; 1059-1311 |
ISSN (online) | 1532-2688 |
ISSN | 1059-1311 |
DOI | 10.1016/j.seizure.2024.02.010 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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