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2. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

4. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

9. Hermansky–Pudlak syndrome in two African‐American brothers

13. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

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