Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01742-1.pdf
Reference33 articles.
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2. Barczykowski AL, Foss AH, Duffner PK, Yan L, Carter RL (2012) Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Am J Med Genet A 158A:2835–2842. https://doi.org/10.1002/ajmg.a.35624
3. Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y (2019) Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. Neurology 93:e647–e652. https://doi.org/10.1212/wnl.0000000000007943
4. Da YW, Li Y, Zhang XQ, Jia JP (2013) Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30:585–588. https://doi.org/10.3760/cma.j.issn.1003-9406.2013.05.017 (in Chinese)
5. Das D, Deb B, Malakar AK, Chakraborty S (2020) Allele frequency analysis of GALC gene causing Krabbe disease in human and its codon usage. Gene 747:144673. https://doi.org/10.1016/j.gene.2020.144673
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2. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21
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