Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

• Main Authors: Parvaneh Karimzadeh (Author), Samaneh Naderi (Author), Farzaneh Modarresi (Author), Hassan Dastsooz (Author), Hamid Nemati (Author), Tayebeh Farokhashtiani (Author), Bibi Shahin Shamsian (Author), Soroor Inaloo (Author), Mohammad Ali Faghihi (Author)
• Format: Book
• Published: BMC, 2017-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive ne...