A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings

Brain and Development（2022）

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摘要

For early diagnosis, including in mild cases, it might be important to consider the clinical course, early head MRI, SEP, and fT3/fT4 ratio.

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关键词

Monocarboxylate transporter 8 (MCT8) deficiency,Free T3/free T4 ratio,Delayed myelination,Somatosensory evoked potentials (SEP),MRI

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