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International Journal of Neuroscience Volume 130, 2020 - Issue 12
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Case Reports

A new compound heterozygous mutation in adult-onset Krabbe disease

Xianghe MengDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yingjiao LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yajun LianDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yujuan LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Liyuan DuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Nanchang XieDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Correspondence[email protected]
View further author information
&
Cui WangDepartment of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaView further author information
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Pages 1267-1271 | Received 26 Jul 2019, Accepted 03 Feb 2020, Published online: 25 Feb 2020

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Zhengqing He, Xinyuan Pang, Jiongming Bai, Haoran Wang, Feng Feng, Rongrong Du & Xusheng Huang. (2022) A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report. Neurocase 28:3, pages 314-319.
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Articles from other publishers (6)

Yu Wang, Su-yue Wang, Kai Li, Yu-long Zhu, Kun Xia, Dan-dan Sun, Wen-long Ai, Xiao-ming Fu, Qun-rong Ye, Jun Li & Huai-zhen Chen. (2022) Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report. Frontiers in Neurology 13.
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Guode Wu, Zhenhua Li, Jing Li, Xin Li, Manxia Wang, Jing Zhang, Guangyao Liu & Pengfei Zhang. (2022) A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy. Frontiers in Neuroscience 16.
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Kenneth Francis Rodrigues, Wilson Thau Lym Yong, Md. Safiul Alam Bhuiyan, Shafiquzzaman Siddiquee, Muhammad Dawood Shah & Balu Alagar Venmathi Maran. (2022) Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review. Biology 11:9, pages 1308.
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Salvatore Iacono, Elda Del Giudice, Alberta Leon, Vincenzo La Bella & Rossella Spataro. (2022) A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review. neurogenetics 23:2, pages 157-165.
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Hongwen Zhou, Zhoulu Wu, Yiwen Wang, Qinyi Wu, Moran Hu, Shuai Ma, Min Zhou, Yan Sun, Baowen Yu, Jingya Ye, Wanzi Jiang, Zhenzhen Fu & Yingyun Gong. 2022. Sphingolipid Metabolism and Metabolic Disease. Sphingolipid Metabolism and Metabolic Disease 189 213 .
Nicholas A. Bascou, Maria L. Beltran-Quintero & Maria L. Escolar. (2020) Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature. Frontiers in Neurology 11.
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