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Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.
Poor prognostic factors in patients with newly diagnosed intestinal Adamantiades-Behçet's disease in the Shanghai Adamantiades-Behçet's disease database: a prospective cohort study.
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
Relapsing polychondritis: clinical presentations, disease activity and outcomes.