Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene

Published:2023-04-04 Issue:6 Volume:38 Page:2013-2023
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Liang Yingjun,Gao Xiaolan,Lu Deyun,Zhang Huiwen^ORCID,Zhang

Funder

Shanghai Municipal Health Commission

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s11011-023-01204-8.pdf

Reference39 articles.

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3. Beneto N, Vilageliu L, Grinberg D, Canals I (2020b) Sanfilippo Syndrome: molecular basis, Disease Models and therapeutic approaches. Int J Mol Sci 21(21). https://doi.org/10.3390/ijms21217819

4. Berry HK (1987) Screening for mucopolysaccharide disorders with the berry spot test. Clin Biochem 20(5):365–371. https://doi.org/10.1016/s0009-9120(87)80088-7

5. Canals I, Beneto N, Cozar M, Vilageliu L, Grinberg D (2015) EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. Sci Rep 5:13654. https://doi.org/10.1038/srep13654

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