Isolated neurological presentations of mevalonate kinase deficiency.

Hoytema van Konijnenburg, Eva M M; Oussoren, Esmeralda; Frenkel, Joost; van Hasselt, Peter M

Hoytema van Konijnenburg, Eva M M; Oussoren, Esmeralda; Frenkel, Joost; van Hasselt, Peter M.

Afiliación

Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.
Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam the Netherlands.
Frenkel J; Department of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.
van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.

JIMD Rep ; 64(1): 53-56, 2023 Jan.

Article en En | MEDLINE | ID: mdl-36636591

Palabras clave

ataxia; autoinflammation; mevalonate kinase deficiency; mevalonic acid; psychomotor delay

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos

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