article_metadata: Murat Gultekin Ruslan Bayramov Cagatay Karaca Niyazi Acer
article_metadata: 10.17712/nsj.2018.1.20170328
article_metadata: Neurosciences (Riyadh)
article_metadata: 2018 Jan;23(1):57-61.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/29455223/
article_metadata: Mucolipidoses / diagnostic imaging Mutation Neuraminidase / genetics
article_metadata: Mucolipidoses / diagnostic imaging Mutation Neuraminidase / genetics Case Reports Cerebellum / diagnostic imaging Diffusion Tensor Imaging Heterozygote Humans Male Mucolipidoses / genetics Mucolipidoses / pathology Thalamic Nuclei / diagnostic imaging Young Adult NEU1 protein, human Neuraminidase Neuraminidase 1 deficiency
article_metadata: PMC6751914
article_metadata: 29455223
article_metadata: Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
article_metadata: 2018