A novel mutation in Sanfilippo Syndrome type B. Case report

• Main Authors: Carmen Maria Chiong Quesada (Author), Tatiana Acosta Sánchez (Author), Sofía Marela de la Fuente Carbonell (Author)
• Format: Book
• Published: Universidad de Ciencias Médicas de La Habana, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disease. The frequent clinical manifestations include slightly coarse facial features, progressive neurodegeneration and mild somatic repercussion caused by mutations in the NAGLU gene, whose locus is 17q21.2.  The...