A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness-Reference-Cited by-同舟云学术

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

Published:2019-07-20 Issue:1 Volume:19 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Coppola Tiziana^ORCID,Becken Bradford,Van Mater Heather,McDonald Marie Theresa,Panayotti Gabriela Maradiaga

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-019-1617-1.pdf

Reference21 articles.

1. van der Hilst JC, Frenkel J. Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep. 2010;12(2):101–7.

2. Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J. 2016;14(1):30.

3. Favier LA, Schulert GS. Mevalonate kinase deficiency: current perspectives. Appl Clin Genet. 2016;9:101–10.

4. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13 5.

5. Aygun D, Sahin S, Cokugras H, et al. Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent. BMJ Case Rep. 2016:17, 2016.

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