A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

BACKGROUND: This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that now has an FDA approved treatment that...

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Detalles Bibliográficos
Autores principales: Coppola, Tiziana, Becken, Bradford, Van Mater, Heather, McDonald, Marie Theresa, Panayotti, Gabriela Maradiaga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642485/
https://www.ncbi.nlm.nih.gov/pubmed/31325964
http://dx.doi.org/10.1186/s12887-019-1617-1

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