Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated

PurposeThe aim of this study was to present a case of early-onset mevalonic aciduria (MA) in a neonate and summarize the relevant phenotypic and genotypic spectra of MA.Methods and resultsWe describe a neonate who presented with elevated inflammatory marker after birth. Liver function tests revealed...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Shanshan Xue, Wujuan Shi, Xiaobo He, Lihong Hao
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2026-03-01
Σειρά:	Frontiers in Immunology
Θέματα:	inflammatory markers mevalonate kinase mevalonic aciduria neonate whole-genome sequencing
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fimmu.2026.1773017/full
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