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...
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 the most common hereditary cause of renal Fanconi syndrome in children.
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.
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.
ACTION (Awareness, Care, and Treatment in Obesity maNagement) examined obesity-related perceptions, attitudes, and behaviors among people with obesity (PwO), health care providers (HCPs), and employer representatives (ERs).
In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.
Obesity has proven to be a gateway to ill health. It has already reached epidemic proportions becoming one of the leading causes of death and disability in Europe and world-wide.
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body.