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Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Osteoporosis in Wilson's disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance.
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
Right heart failure and mortality in patients undergoing transcatheter tricuspid valve interventions.