Cardiomyopathy and skeletal myopathy in an unusual variant of GM1 gangliosidosis
Tài liệu tham khảo
Nadas, 1972, Pediatric cardiology, 217
Waber, 1982, Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport, J Pediatr, 101, 700, 10.1016/S0022-3476(82)80294-1
Salafsky, 1973, A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease, J Lab Clin Med, 81, 450
Kaback, 1977, Tay-Sachs disease heterozygote detection: a quality control study, 267
Warner, 1979, Synthesis of 2′-(4-methylumbelliferyl)-alpha-d-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in normal humans and in sialidosis, Biochemistry, 18, 2783, 10.1021/bi00580a014
Binns, 1984, Ganglioside degradation in cultured fibroblasts: a provocative method for the diagnosis of gangliosidosis variants, Am J Hum Genet, 36, 8S
Lowden, 1979, Sialidosis: a review of human neuraminidase deficiency, Am J Hum Genet, 31, 1
O'Brien, 1983, The gangliosidoses, 945
Benson, 1976, GM1: generalized gangliosidosis variant with cardiomegaly, Postgrad Med J, 52, 159, 10.1136/pgmj.52.605.159
Rosenberg, 1985, Cardiac involvement in diseases characterized by beta-galactosidase deficiency, J Pediatr, 106, 78, 10.1016/S0022-3476(85)80472-8
Kohlschütter, 1982, Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency, Eur J Pediatr, 139, 75, 10.1007/BF00442086