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

• Egile Nagusiak: Parvaneh Karimzadeh (Egilea), Samaneh Naderi (Egilea), Farzaneh Modarresi (Egilea), Hassan Dastsooz (Egilea), Hamid Nemati (Egilea), Tayebeh Farokhashtiani (Egilea), Bibi Shahin Shamsian (Egilea), Soroor Inaloo (Egilea), Mohammad Ali Faghihi (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2017-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...