Infant-onset mevalonate kinase deficiency with a previously unreported MVK c.827 A > G (p.Glu276Gly) variant presenting as suspected incomplete kawasaki disease with marked hyperinflammation: clinical response to firsekibart and systematic evidence synthesis

Yang Shen, Yutong Gao, Jing Shan, Xiaoliang He, Denghuan Chen, Shouwei Hang, Xinrong Wang, Dingyun Chen, Na Li, Daliang Xu

Open source

DOI
10.1186/s12969-026-01262-z
Published
2026-08-08
Container
Pediatric Rheumatology
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s12969-026-01262-z,
  title = {Infant-onset mevalonate kinase deficiency with a previously unreported MVK c.827 A \> G (p.Glu276Gly) variant presenting as suspected incomplete kawasaki disease with marked hyperinflammation: clinical response to firsekibart and systematic evidence synthesis},
  author = {Yang Shen and Yutong Gao and Jing Shan and Xiaoliang He and Denghuan Chen and Shouwei Hang and Xinrong Wang and Dingyun Chen and Na Li and Daliang Xu},
  year = {2026},
  journal = {Pediatric Rheumatology},
  doi = {10.1186/s12969-026-01262-z},
  url = {https://doi.org/10.1186/s12969-026-01262-z}
}

RIS

TY  - JOUR
TI  - Infant-onset mevalonate kinase deficiency with a previously unreported MVK c.827 A > G (p.Glu276Gly) variant presenting as suspected incomplete kawasaki disease with marked hyperinflammation: clinical response to firsekibart and systematic evidence synthesis
AU  - Yang Shen
AU  - Yutong Gao
AU  - Jing Shan
AU  - Xiaoliang He
AU  - Denghuan Chen
AU  - Shouwei Hang
AU  - Xinrong Wang
AU  - Dingyun Chen
AU  - Na Li
AU  - Daliang Xu
PY  - 2026
JO  - Pediatric Rheumatology
DO  - 10.1186/s12969-026-01262-z
UR  - https://doi.org/10.1186/s12969-026-01262-z
ER  - 

APA

Shen, Y., Gao, Y., Shan, J., He, X., Chen, D., Hang, S., Wang, X., Chen, D., Li, N., & Xu, D. (2026). Infant-onset mevalonate kinase deficiency with a previously unreported MVK c.827 A > G (p.Glu276Gly) variant presenting as suspected incomplete kawasaki disease with marked hyperinflammation: clinical response to firsekibart and systematic evidence synthesis. Pediatric Rheumatology. https://doi.org/10.1186/s12969-026-01262-z

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