Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
Abstract Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation. Methods From January 2017 to November 2022, patients with nervous system injury as the main clinic...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2024-02-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12887-024-04559-8 |