ducational Series - Early diagnosis of mucopolysaccharidosis

This review is intended as an educational resource for health professionals. It presents a background on
the current understanding of Mucopolysaccharidosis (MPS), specifically types I & II, and focuses on how
to identify signs and symptoms early to minimise irreversible disease progression. The review discusses
the current diagnostic tests and concludes with MPS I & II treatments. Increasing awareness of the clinical
features associated with MPS I & II is critical to early diagnosis and treatment, which are required to improve
patient quality of life.

Independent commentary by Carolyn Ellaway a Senior Staff Specialist with the Genetic Metabolic Disorders Services at Sydney Children’s Hospital, Randwick and the Children’s Hospital at Westmead, in Sydney Australia and Clinical Associate Professor at the University of Sydney. 

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