Murat Gultekin Ruslan Bayramov Cagatay Karaca Niyazi Acer
10.17712/nsj.2018.1.20170328
Neurosciences (Riyadh)
2018 Jan;23(1):57-61.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/29455223/
Mucolipidoses / diagnostic imaging Mutation Neuraminidase / genetics
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
PMC6751914
29455223
Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
2018