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Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review

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Year: 2019
Type: article
Source: The Cerebellum
DOI: 10.1007/s12311-019-1005-2
Authors: Jong Hyeon Ahn, Ah Reum Kim, Chung Lee, Nayoung K. D. Kim, Nam-Soon Kim, Woong-Yang Park, Minkyeong Kim, Jinyoung Youn, Jin Whan Cho, Ji Sun Kim
Institutions: Samsung Medical Center, Sungkyunkwan University, Korea Research Institute of Bioscience and Biotechnology, Korea University of Science and Technology
Language: English

Topic: Lysosomal Storage Disorders Research
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Korea Research Institute of Bioscience and Biotechnology, National Research Foundation of Korea
Awards: G1821791524, G3521530107
OpenAlex ID: W2910477052
FWCI: 2.734
Cites: 23
Cited by: 30
Related to: 10
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