Isolated neurological presentations of mevalonate kinase deficiency

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 severe end o...

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Detalles Bibliográficos
Autores principales: Hoytema van Konijnenburg, Eva M. M., Oussoren, Esmeralda, Frenkel, Joost, van Hasselt, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830010/
https://www.ncbi.nlm.nih.gov/pubmed/36636591
http://dx.doi.org/10.1002/jmd2.12348

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