Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine
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DOI: 10.1016/j.nmd.2022.01.005
Abstract: PURA syndrome is a rare, clinically heterogeneous disorder characterized by a wide spectrum of neurodevelopmental problems, and occasionally congenital heart defects, urogenital malformations, skeletal abnormalities and endocrine disorders. We describe the hospital course, diagnostic evaluations… read more here.
Keywords: pura; hypotonic infant; pyridostigmine; pura syndrome ... See more keywords