A novel mutation in Sanfilippo Syndrome type B. Case report

• मुख्य लेखकों: Carmen Maria Chiong Quesada (लेखक), Tatiana Acosta Sánchez (लेखक), Sofía Marela de la Fuente Carbonell (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Universidad de Ciencias Médicas de La Habana, 2021-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...