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

• Hlavní autoři: Tiziana Coppola (Autor), Bradford Becken (Autor), Heather Van Mater (Autor), Marie Theresa McDonald (Autor), Gabriela Maradiaga Panayotti (Autor)
• Médium: Kniha
• Vydáno: BMC, 2019-07-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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...