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A Review of the Clinical Outcomes in Idursulfase-Treated and Untreated Filipino Patients With Mucopolysaccharidosis Type II: Data From the Local Lysosomal Storage Disease Registry

key information

source: Orphanet journal of rare diseases

year: 2021

authors: Racoma MJC,Calibag MKKB,Cordero CP,Abacan MAR,Chiong MAD

summary/abstract:

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S). Enzyme replacement therapy (ERT) with recombinant idursulfase (IDS), the standard of care, was started in the Philippines in 2017. This study reviewed the clinical outcomes in idursulfase-treated and untreated Filipino MPS II patients who were included in the local Lysosomal Storage Disease (LSD) registry of the Institute of Human Genetics-National Institutes of Health (IHG-NIH) from January 1999 to December 2019.

organization: Division of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines, Manila, Philippines. mcracoma@up.edu.ph.

DOI: 10.1186/s13023-021-01875-5

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