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Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.
Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.
📖 RevisãoErythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.
📖 RevisãoNewborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.
Study on the disease burden of patients with mucopolysaccharidosis type II in China.