The Clinical and Molecular Spectrum of GM1 Gangliosidosis
Tài liệu tham khảo
Brunetti-Pierri, 2008, GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects, Mol Genet Metab, 94, 391, 10.1016/j.ymgme.2008.04.012
Suzuki, 1991, Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency, Dev Neurosci, 13, 299, 10.1159/000112201
Regier, 1993, GLB1-related disorders
Kannebley, 2015, Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis, JIMD Rep, 24, 115, 10.1007/8904_2015_451
Karimzadeh, 2017, Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene, BMC Med Genet, 18, 73, 10.1186/s12881-017-0417-4
Lee, 2018, Diagnostic challenge for the rare lysosomal storage disease: late infantile GM1 gangliosidosis, Brain Dev, 40, 383, 10.1016/j.braindev.2018.01.009
Caciotti, 2003, Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient, Hum Genet, 113, 44, 10.1007/s00439-003-0930-8
2013, World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects, JAMA, 310, 2191, 10.1001/jama.2013.281053
Hofer, 2010, Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations, Clin Genet, 78, 236, 10.1111/j.1399-0004.2010.01379.x
Hollak, 1994, Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease, J Clin Invest, 93, 1288, 10.1172/JCI117084
Kooper, 2006, Lysosomal storage diseases in non-immune hydrops fetalis pregnancies, Clin Chim Acta, 37, 176, 10.1016/j.cca.2006.03.007
Silva, 1999, Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis, Hum Mutat, 13, 401, 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N
Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30
Feng, 2018, Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis, Metab Brain Dis, 33, 2051, 10.1007/s11011-018-0315-2
Sperb, 2013, Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis, Gene, 512, 113, 10.1016/j.gene.2012.09.106
Caciotti, 2011, GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings, Biochim Biophys Acta, 1812, 782, 10.1016/j.bbadis.2011.03.018
Jarnes Utz, 2017, Infantile gangliosidoses: mapping a timeline of clinical changes, Mol Genet Metab, 121, 170, 10.1016/j.ymgme.2017.04.011
Azarsiz, 2017, Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis?, Ann Clin Biochem, 54, 636, 10.1177/0004563216675647
Wajner, 2007, Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease, Clin Biochem, 40, 365, 10.1016/j.clinbiochem.2006.12.003
Yamashita, 1981, Urinary oligosaccharides of GM1-gangliosidosis. Different excretion patterns of oligosaccharides in the urine of type 1 and type 2 subgroups, J Biol Chem, 256, 4789, 10.1016/S0021-9258(19)69322-1
Xia, 2013, Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases, Clin Chem, 59, 1357, 10.1373/clinchem.2012.201053
Callahan, 1999, Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein, Biochim Biophys Acta, 1455, 85, 10.1016/S0925-4439(99)00075-7
Boustany, 1993, Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients, Am J Hum Genet, 53, 881
Santamaria, 2007, Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America, Clin Genet, 71, 273, 10.1111/j.1399-0004.2007.00767.x
Santamaria, 2006, Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies, Hum Mutat, 27, 1060, 10.1002/humu.9451
Chakraborty, 1994, Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis, Am J Hum Genet, 54, 1004
Morrone, 2000, Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement, Hum Mutat, 15, 354, 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L
Paschke, 2001, Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B, Hum Genet, 109, 159, 10.1007/s004390100570
Yoshida, 1991, Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases, Am J Hum Genet, 49, 435
Kaye, 1997, Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis, J Child Neurol, 12, 242, 10.1177/088307389701200404
Nishimoto, 1991, GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients, Am J Hum Genet, 49, 566
