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

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

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...

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Bibliographic Details
Main Authors: Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
Format: Article
Language:English
Published: BMC 2017-07-01
Series:BMC Medical Genetics
Subjects:
GM1 gangliosidosis
GLB1
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0417-4

Internet

http://link.springer.com/article/10.1186/s12881-017-0417-4

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