Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry
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Wenger, 2001, Galctosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease), 3669
Escolar, 2005, Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease, N Engl J Med, 352, 2069, 10.1056/NEJMoa042604
Duffner, 2009, Newborn screening for Krabbe disease: the New York State Model, Pediatr Neurol, 40, 245, 10.1016/j.pediatrneurol.2008.11.010
Tappino, 2010, Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease, Hum Mutat, 31, E1894, 10.1002/humu.21367
Wenger, 1997, Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications, Hum Mutat, 10, 268, 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
Rafi, 1995, A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease, Hum Mol Genet, 4, 1286, 10.1093/hmg/4.8.1285
Krabbe, 1916, A new familial infantile form of diffuse brain-sclerosis, Brain, 39, 74, 10.1093/brain/39.1-2.74
Suzuki, 1970, Globoid cell leucodystrophy (Krabbe’s disease): Deficiency of galactocerebroside beta galactosidase, Proc Natl Acad Sci USA, 66, 302, 10.1073/pnas.66.2.302
Chen, 1993, Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy, Hum Mol Genet, 2, 1841, 10.1093/hmg/2.11.1841
Hagberg, 1969, Infantile globoid cell leucodystrophy: A clinical and genetic study of 32 Swedish cases 1953–1967, Neuropaediatrie, 1, 74, 10.1055/s-0028-1091865
Duffner, 2009, The Hunter’s Hope Krabbe family database, Pediatr Neurol, 40, 13, 10.1016/j.pediatrneurol.2008.08.011
Hagberg, 1963, Diagnosis of Krabbe’s infantile leucodystrophy, J Neurol Neurosurg Psychiatry, 26, 195, 10.1136/jnnp.26.3.195
Wenger, 2000, Krabbe disease: Genetic aspects and progress toward therapy, Mol Genet Metab, 70, 1, 10.1006/mgme.2000.2990
Jalal, 2011, The effect of galactocerebrosidase (GALC) activity on age of symptom onset in Krabbe disease (KD), Mol Genet Metab, 102, S22, 10.1016/j.ymgme.2010.11.075
Husain, 2004, Krabbe disease: Neurophysiologic studies and MRI correlations, Neurology, 63, 617, 10.1212/01.WNL.0000134651.38196.F8
McGraw, 2005, Krabbe disease treated with hematopoietic stem cell transplantation: Serial assessment of anisotropy measurements-initial experience, Radiology, 236, 221, 10.1148/radiol.2353040716
Loes, 1999, Globoid cell leukodystrophy: Distinguishing early-onset from late onset disease using a brain image scoring method, AJNR, 20, 316
Barone, 1996, Clinical and neuroradiological findings in classic infantile and late-onset globoid cell leukodystrophy (Krabbe disease), Am J Med Genet, 63, 209, 10.1002/(SICI)1096-8628(19960503)63:1<209::AID-AJMG37>3.0.CO;2-Q
Feanny, 1987, Intracerebral paraventricular hyperdensities: A new CT sign in Krabbe globoid cell leukodystrophy, J Inherit Metab Dis, 10, 24, 10.1007/BF01799484
Kwan, 1984, Specific CT findings in Krabbe disease, AJNR, 143, 665
Aldosari, 2004, Brain-stem auditory and visual evoked potentials in children with Krabbe disease, Clin Neurophysiol, 115, 1653, 10.1016/j.clinph.2004.02.022
Siddiqi, 2006, Peripheral neuropathy in Krabbe disease: Electrodiagnostic findings, Neurology, 67, 263, 10.1212/01.wnl.0000230153.34613.84