Abstract Background Morquio A (MPS IVA) is a rare disease characterised by a deficiency of
N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal …

Miglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to
moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is …

Niemann–Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage
disorder. It is highly heterogeneous, and there is limited awareness of a substantial …

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

Background: Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal
recessive, life-limiting lysosomal storage disease characterized by deficient activity of the …

Background Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited
monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is …

Aim To explore the clinical presentation, course, treatment and impact of early treatment in
patients with remethylation disorders from the European Network and Registry for …

Background Inborn errors of metabolism (IEMs) underlie a substantial proportion of
paediatric disease burden but their genetic diagnosis can be challenging using the …

Background: The optimal dose of protein substitute has not been determined in children with
phenylketonuria (PKU). Aim: To determine if a lower dose of protein substitute could achieve …

Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening
conditions that have a profound impact on sufferers and their families, but many are …