Four novel GALC gene mutations in two Chinese patients with Krabbe disease
Tóm tắt
Từ khóa
Tài liệu tham khảo
Austin, 1970, Studies in globoid (Krabbe) leukodystrophy (GLD). V. Controlled enzymic studies in ten human cases, Arch. Neurol., 23, 502, 10.1001/archneur.1970.00480300024003
Chen, 1993, Galactocerebrosidase from human urine: purification and partial characterization, Biochim. Biophys. Acta, 1170, 53, 10.1016/0005-2760(93)90175-9
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
Den Dunnen, 2000, Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum. Mutat., 15, 7, 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
Den Dunnen, 2003, Standardizing mutation nomenclature: why bother?, Hum. Mutat., 22, 181, 10.1002/humu.10262
Jardim, 1999, Protracted course of Krabbe disease in an adult patient bearing a novel mutation, Arch. Neurol., 56, 1014, 10.1001/archneur.56.8.1014
Nagano, 1998, Expression and processing of recombinant human galactosylceramidase, Clin. Chim. Acta, 276, 53, 10.1016/S0009-8981(98)00095-3
Puckett, 2012, Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards, Mol. Genet. Metab., 105, 126, 10.1016/j.ymgme.2011.10.010
Raghavan, 2005, Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations, J. Inherit. Metab. Dis., 28, 1005, 10.1007/s10545-005-4138-z
Sakai, 1994, Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase, Biochem. Biophys. Res. Commun., 198, 485, 10.1006/bbrc.1994.1071
Satoh, 1997, Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination, Neurology, 49, 1392, 10.1212/WNL.49.5.1392
Suzuki, 1970, Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase, Proc. Natl. Acad. Sci. U. S. A., 66, 302, 10.1073/pnas.66.2.302
Tappino, 2010, Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease, Hum. Mutat., 31, E1894, 10.1002/humu.21367
Wang, 1992, A study of genetic leukodystrophies in Chinese children, Zhonghua Min Guoxiao Er Ke Yi Xue Hui Za Zhi, 33, 44
Wenger, 2001, Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease), 3669
Wiederschain, 1992