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...
Guardado en:
| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wiley
2023-01-01
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| Colección: | JIMD Reports |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1002/jmd2.12348 |
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