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Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia.
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.