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

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 neurodegen...

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Detalles Bibliográficos
Autores principales: Karimzadeh, Parvaneh, Naderi, Samaneh, Modarresi, Farzaneh, Dastsooz, Hassan, Nemati, Hamid, Farokhashtiani, Tayebeh, Shamsian, Bibi Shahin, Inaloo, Soroor, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513107/
https://www.ncbi.nlm.nih.gov/pubmed/28716012
http://dx.doi.org/10.1186/s12881-017-0417-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513107/
https://www.ncbi.nlm.nih.gov/pubmed/28716012
http://dx.doi.org/10.1186/s12881-017-0417-4

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