Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders

• मुख्य लेखकों: Marta Kaczor-Kamińska (लेखक), Kamil Kamiński (लेखक), Maria Wróbel (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2022-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...