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

• Asıl Yazarlar: Parvaneh Karimzadeh (Yazar), Samaneh Naderi (Yazar), Farzaneh Modarresi (Yazar), Hassan Dastsooz (Yazar), Hamid Nemati (Yazar), Tayebeh Farokhashtiani (Yazar), Bibi Shahin Shamsian (Yazar), Soroor Inaloo (Yazar), Mohammad Ali Faghihi (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2017-07-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...