Yukihiro Yuhara

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We report an 11-year-old boy with apparently the motor axonal form of Guillain-Barre syndrome (GBS) who presented with severe paralysis and respiratory insufficiency by the 3rd day from onsets of symptoms. His serum anti-Mycoplasma pneumoniae and anti-Galactocerebroside (Gal-C) IgM antibody were significantly elevated. Magnetic resonance imaging, following(More)
We present an autopsy case of ornithine transcarbamylase (OTC) deficiency with grumose degeneration in the dentate nucleus of the cerebellum. The patient had intractable neonatal convulsions and hyperammonemia from the 3rd day after birth. Diagnosis of OTC deficiency was made based on null activity of the enzyme and four-base deletions in exon 9 of the OTC(More)
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