GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)

OBJECTIVE: GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay–Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHOD...

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Autors principals: KARIMZADEH, Parvaneh, JAFARI, Narjes, NEJAD BIGLARI, Habibeh, JABBEH DARI, Sayena, AHMAD ABADI, Farzad, ALAEE, Mohammad-Reza, NEMATI, Hamid, SAKET, Sasan, TONEKABONI, Seyed Hasan, TAGHDIRI, Mohammad-Mahdi, GHOFRANI, Mohammad
Format: Artigo
Idioma:Inglês
Publicat: Shahid Beheshti University of Medical Sciences 2014
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135282/
https://ncbi.nlm.nih.gov/pubmed/25143775
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