Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

BACKGROUND: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and in...

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Detalles Bibliográficos
Autores principales: Beker-Acay, Mehtap, Elmas, Muhsin, Koken, Resit, Unlu, Ebru, Bukulmez, Aysegul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780271/
https://www.ncbi.nlm.nih.gov/pubmed/26985245
http://dx.doi.org/10.12659/PJR.895911

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780271/
https://www.ncbi.nlm.nih.gov/pubmed/26985245
http://dx.doi.org/10.12659/PJR.895911

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