Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry

Pediatric Neurology - Tập 45 Số 3 - Trang 141-148 - 2011
Patricia K. Duffner1, Amy Barczykowski2, Kabir Jalal2, Yan Li2, Denise M. Kay3, Randy L. Carter2
1Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, New York
2Population Health Observatory, Department of Biostatistics, School of Public Health and Health Professions, State University of New York at Buffalo, Buffalo, New York
3Wadsworth Center, New York State Department of Health, Albany, New York

Tóm tắt

Từ khóa


Tài liệu tham khảo

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

Baram, 1986, Krabbe disease: Specific MRI and CT findings, Neurology, 36, 111, 10.1212/WNL.36.1.111

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

Moser, 2006, Peripheral nerve involvement in Krabbe disease: A guide to therapy selection and evaluation, Neurology, 67, 201, 10.1212/01.wnl.0000231531.73713.a9