Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants-Reference-Cited by-同舟云学术

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

Published:2024-05-22 Issue:5 Volume:39 Page:753-762
ISSN:1573-7365
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Li Taolin^ORCID,Huang Yonglan^ORCID,Tao Chunyan^ORCID,Yin Xi^ORCID,Su Xueying^ORCID,Shao Yongxian^ORCID,Liang Cuili^ORCID,Jiang Minyan^ORCID,Cai Yanna^ORCID,Lin Yunting^ORCID,Zeng Chunhua^ORCID,Zhao Xiaoyuan^ORCID,Liu Li^ORCID,Zhang Wen^ORCID

Funder

Guangzhou Municipal Science and Technology Project

Natural Science Foundation of Guangdong Province

Guangzhou Institute of Pediatrics, Guangzhou Women and Childrens Medical Center

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11011-024-01348-1.pdf

Reference31 articles.

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2. Babcock MC, Mikulka CR, Wang B et al (2021) Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor. Sci Rep 11(1):14486. https://doi.org/10.1038/s41598-021-93601-1

3. Batzios SP, Zafeiriou DI (2012) Developing treatment options for metachromatic leukodystrophy. Mol Genet Metab 105(1):56–63. 10.1016/ j.ymgme.2011.10.002

4. Beerepoot S, van Dooren SJM, Salomons GS et al (2020) Metachromatic leukodystrophy genotypes in the Netherlands reveal novel pathogenic ARSA variants in non-caucasian patients. Neurogenetics 21(4):289–299. 10.1007/ s10048-020-00621-6

5. Beschle J, Döring M, Kehrer C et al (2020) Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy. Mol Cell Pediatr 7(1):12. https://doi.org/10.1186/s40348-020-00103-7