Isolated neurological presentations of mevalonate kinase deficiency
Abstract Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms are considered to be part of the sev...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2023-01-01
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| Col·lecció: | JIMD Reports |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/jmd2.12348 |
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