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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
📖 RevisãoClinical and health status after permanent pacemaker implantation in patients undergoing transcatheter aortic valve replacement: Insights from the SCOPE I randomized trial.
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study.