Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders

• Main Authors: Marta Kaczor-Kamińska (Author), Kamil Kamiński (Author), Maria Wróbel (Author)
• Formato: Livro
• Publicado em: MDPI AG, 2022-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (<i>NAGLU</i>) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan su...