Journal of inherited metabolic diseaseHumansMucopolysaccharidosis IIduronidaseBrazilMale
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Carlos Robson Costa Cruz, Edina Poletto, Larissa Mota Silva, Gabriela Pasqualim, Alice Brinckmann Oliveira Netto, Sandra Leistner, Ana Carolina Brusius-Facchin, Franciele Barbosa Trapp, Ursula Matte, Roberto Giugliani, Guilherme Baldo
Published: 202610.1002/jimd.70144
Abstract
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by mutations in the IDUA gene, resulting in decreased activity of the lysosomal enzyme α-l-iduronidase (IDUA) and consequent accumulation of glycosaminoglycans in the lysos…
Preview only. Read the full abstract at the source