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The case of a 35-year-old man who presented with sudden-onset generalized tonic-clonic seizures highlights that FLAMES may be complicated by postictal purpura and rhabdomyolysis, underscoring the potential for diagnostic confusion with systemic inflammatory disease.
Pseudohypoparathyroidism (PHP) type 1A is a rare inherited disorder characterized by resistance to parathyroid hormone and, typically, features of Albright hereditary osteodystrophy. We report a late-onset case in a 59-year-old woman who presented with cognitive decline, behavioral and psychiatric symptoms, gait instab...
A narrative review of the genetic evolution, molecular pathogenic mechanisms, phenotypic heterogeneity, and precision diagnosis and treatment strategies for high-frequency ATP7B mutations in the Chinese WD population is provided.
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