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Case of the Day
Adult polyglucosan body disease
Contributed by Rodrigo Dias Duarte
This is a confirmed case of adult polyglucosan body disease (APBD). Exome demonstrated glycogen branching enzyme (GBE) deficiency.
APBD with glycogen branching enzyme (GBE) deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult-onset leukodystrophy or spastic paraplegia with early onset of urinary…
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