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Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan

Eri Ohashi, Itaru Hayakawa, Yuka Murofushi, Michiko Kawai, Sato Suzuki‐Muromoto, Yuichi Abe, Michiko Yoshida, Naoko Kono, Rika Kosaki, Ai Hoshino, Masashi Mizuguchi, Masaya Kubota

2021Brain and Development18 citationsDOI

Topics & Concepts

ThermolabileMissense mutationEncephalopathyMedicineCompound heterozygosityPediatricsMutationInternal medicineGeneticsBiologyGeneEnzymeBiochemistryInfectious Encephalopathies and EncephalitisMetabolism and Genetic DisordersViral Infections and Immunology Research
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan | Litcius