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1. State of rare disease management in Southeast Asia.

2. A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.

3. Economic burden in the management of transfusion-dependent thalassaemia patients in Malaysia from a societal perspective.

4. Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

5. Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.