. Debs, R., et al., Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. Journal of Inherited Metabolic Disease, 2013. 36(5): p. 859-868.
. Hossain, M.A., et al., Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene, 2014. 534(2): p. 144-154.
. Xu, C., et al., Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation. Journal of Human Genetics, 2006. 51(6): p. 548-554.
. Tappino, B., et al., Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human Mutation, 2010. 31(12): p. E1894-E1914.
. Kardas, F., et al., A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. Gene, 2013. 517(1): p. 125-7.
. Krägeloh-Mann, I., et al., Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro. European Journal of Paediatric Neurology, 2017. 21(3): p. 522-529.
. Matthes, F., et al., Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy. Exp Neurol, 2015. 271: p. 36-45.
. Zerkaoui, M., et al., Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC Pediatrics, 2015. 15(1).
. ZHENG, J.P., H.Y. SHENG and H.Y. L, The clinical features and molecular genetic assay of globoid cell leukodystrophy (Krabbe disease). Chin J Pediatr, 2014. 29(5).
. Da, Y.W., et al., [Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2013. 30(5): p. 585-8.
. Zhao, S., et al., Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. Clinical Genetics, 2018. 93(2): p. 248-254.
. CHEN, X.C. and E. Al., Detection of galactocerebrosidase activity in dried blood spots. Int J Pediatr, 2015. 42(4).
. MA, X.W., J.Y. ZHAO and L.N. ZHU, Application of next generation sequencing technology for genetic diagnosis of a case with globoid cell leukodystrophy. J Clin Pediatr, 2017. 35(8).
. MAO, C.H., M.Q. XIE and C.Y. LIU, Adult onset leukodystrophy manifested as spastic paraplegia. Chin J Neurol, 2015. 48(9).
. ZHANG, H.W., G.X. F. and J. YE, Sphingolipidoses of lysosomal storage disorders. J Clin Pediatr, 2010. 28(3).
. ZHANG, Y., Y. DING and X.Y. LI, The clinical and genetic features of early-onset globoid cell leukodystrophy in one boy. J Clin Pediatr, 2014. 32(10).
. Zhang, T., et al., Adult-onset Krabbe disease in two generations of a Chinese family. Annals of translational medicine, 2018. 6(10): p. 174-174-174.
. Ren, X.T., Y. Yang and C.Z. Wang, [A case of Krabbe disease]. Zhonghua Er Ke Za Zhi, 2013. 51(1): p. 69-70.
. Wang, X., et al., The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies. Sci Rep, 2016. 6: p. 35936.
. Yang, Y., et al., Four novel GALC gene mutations in two Chinese patients with Krabbe disease. Gene, 2013. 519(2): p. 381-384.
. Shao, Y., et al., Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. neurogenetics, 2016. 17(2): p. 137-141.
. Liao, P., J. Gelinas and S. Sirrs, Phenotypic variability of Krabbe disease across the lifespan. Can J Neurol Sci, 2014. 41(1): p. 5-12.
. Xu, C., et al., Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. J Hum Genet, 2006. 51(6): p. 548-54.
. Lim, S.M., et al., Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. Oncotarget, 2016. 7(46): p. 74496 - 74509.