article_metadata: Ruoyi Ishikawa Masahiro Nakamori Megumi Takenaka Shiro Aoki Yu Yamazaki Akihiro Hashiguchi Hiroshi Takashima Hirofumi Maruyama
article_metadata: 10.3389/fneur.2023.1187822
article_metadata: Front Neurol
article_metadata: 2023 Jun 13;14:1187822.
article_metadata: cns demyelination mtp deficiency brain calcification cerebral gadolinium enhancement higher brain dysfunction peripheral neuropathy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37388542/
article_metadata: Case Reports
article_metadata: PMC10299898
article_metadata: 37388542
article_metadata: Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
article_metadata: 2023