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

Abstract 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 treatm...

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Bibliographic Details
Main Authors: Tiziana Coppola (Author), Bradford Becken (Author), Heather Van Mater (Author), Marie Theresa McDonald (Author), Gabriela Maradiaga Panayotti (Author)
Format: Book
Published: BMC, 2019-07-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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