Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme.
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy...
Launched on epgonline.org as the second clinical resource dedicated to lysosomal storage disorders, the Hunter Syndrome Knowledge Centre is now live for healthcare professionals in paedatrics, ENT and genetics.
Shire plc and ArmaGen Technologies, Inc have announced a worldwide licensing and collaboration agreement for AGT-182, an investigational enzyme replacement...
GC Pharma and Clinigen has received Japan manufacturing and marketing approval for Hunterase ICV (intracerebroventricular) Injection 15 mg (idursulfase-beta (recombinant)) as a treatment for mucopolysaccharidosis type II (Hunter syndrome).
Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on...
This article summarizes the milestones in the development of burosumab leading to its first global approval in the EU for XLH in paediatric patients.
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.
Did you know, rare diseases will affect 1 in 20 people at some point during their lifetime.
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.