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Case report: Mitochondrial trifunctional protein deficiency..:
Ruoyi Ishikawa
;
Masahiro Nakamori
;
Megumi Takenaka
...
https://www.frontiersin.org/articles/10.3389/fneur.2023.1187822/full. , 2023
Link:
https://doi.org/10.3389/fneur.2023.1187822
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:4d4677a925ca4143a5a13d95158b9db9&Exemplar=1&LAN=DE A1 Ruoyi Ishikawa A1 Masahiro Nakamori A1 Megumi Takenaka A1 Shiro Aoki A1 Yu Yamazaki A1 Akihiro Hashiguchi A1 Hiroshi Takashima A1 Hirofumi Maruyama PB Frontiers Media S.A. YR 2023 K1 MTP deficiency K1 peripheral neuropathy K1 higher brain dysfunction K1 brain calcification K1 cerebral gadolinium enhancement K1 CNS demyelination K1 Neurology. Diseases of the nervous system K1 RC346-429 JF https://www.frontiersin.org/articles/10.3389/fneur.2023.1187822/full LK http://dx.doi.org/https://doi.org/10.3389/fneur.2023.1187822 DO https://doi.org/10.3389/fneur.2023.1187822 SF ELIB - SuUB Bremen
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