6 papers indexed here
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Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism that frequently involves the central nervous system and may be associated with secondary sleep disturbances. Excessive daytime sleepiness (EDS) in WD is typically attributed to metabolic or structural brain injury rather than primary sleep–wa...
Background Parkinson’s disease (PD) is a neurodegenerative disorder with limited therapeutic options. Shao Di Pa Ning Decoction (SDPND), a traditional Chinese medicine (TCM) compound formula for PD, has demonstrated therapeutic efficacy, but its underlying mechanisms remain unclear. Purpose This research aims to system...
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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