Isolated neurological presentations of mevalonate kinase deficiency.
ataxia
autoinflammation
mevalonate kinase deficiency
mevalonic acid
psychomotor delay
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
01
09
2022
revised:
31
10
2022
accepted:
02
11
2022
entrez:
13
1
2023
pubmed:
14
1
2023
medline:
14
1
2023
Statut:
epublish
Résumé
Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the
Identifiants
pubmed: 36636591
doi: 10.1002/jmd2.12348
pii: JMD212348
pmc: PMC9830010
doi:
Types de publication
Case Reports
Langues
eng
Pagination
53-56Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Eva MM Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel and Peter M. van Hasselt declare that they have no conflict of interest.
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