References
- 1. Krabbe K. A new familial infantile form of diffuse brain-sclerosis. Brain. 1916; 39: 74-114.10.1093/brain/39.1-2.74
- 2. Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015; 555(1): 2-13.10.1016/j.gene.2014.09.04625260228
- 3. Liao P, Gelinas J, Sirrs S. Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 2014; 41(1): 5-12.10.1017/S031716710001618824384330
- 4. Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat. 2010; 31: E1894-1914.10.1002/humu.21367305242020886637
- 5. Luzi P, Rafi MA, Wenger DA. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Ann Neurol. 1996; 40(1): 116-9.10.1002/ana.4104001198687180
- 6. De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996; 59(6): 1233-42.
- 7. Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation. Clin Genet. 2011; 80: 452-458.10.1111/j.1399-0004.2010.01572.x21070211
- 8. Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G. Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet. 1985; 21: 765-770.10.1002/ajmg.13202104204025402
- 9. Wenger DA, Rafi MA, Luzi P, Datto J. Costantino- Ceccarini, E. Krabbe disease: genetic aspects and progress toward therapy. Molec Genet Metab. 2000; 70: 1-9.10.1006/mgme.2000.299010833326
- 10. Suzuki Y, Suzuki K. Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in se rum, leukocytes, and fibroblasts. Science. 1971; 171: 73-74.10.1126/science.171.3966.735538703
- 11. Crome L. Hanefeld F, Patrick D, Wilson J. Late onset globoid cell leucodystrophy. Brain. 1973; 96: 841-848.10.1093/brain/96.4.8414773865
- 12. Phelps M, Aicardi J, Vanier MT. Late onset Krabbe's leukodystrophy: a report of four cases. J Neurol Neurosurg Psychiat. 1991; 54: 293-296.10.1136/jnnp.54.4.2934884812056315
- 13. Verdru P, Lammens M, Dom R, Van Elsen A, Carton H. Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology. 1991; 41: 1382-1384.10.1212/WNL.41.9.13821891085
- 14. Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci. 1991; 13: 232-239.10.1159/0001121661817026
- 15. Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation. Clin Genet. 2011; 80: 452-458.10.1111/j.1399-0004.2010.01572.x21070211
- 16. Rafi MA, Luzi P, Chen YQ, Wenger DA. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Molec Genet. 1995; 4: 1285-1289.10.1093/hmg/4.8.12857581365
- 17. Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet. 1996; 97: 304-308.10.1007/BF021857598786069
- 18. Xu C, Sakai N, Taniike M, Inui K, Ozono K. 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: 548-554.10.1007/s10038-006-0396-316607461
- 19. Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, et al. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet. 1997; 100: 450-456.10.1007/s0043900505329272171
- 20. Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. New Eng. J Med. 1998; 338: 1119-1126.
- 21. Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. New Eng J Med. 2005; 352: 2069-2081.10.1056/NEJMoa04260415901860