Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C
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K. Nakashima | T. Takeshima | K. Ohno | S. Akaboshi | Yasuhiro Watanabe | T. Yano | M. Taniguchi | G. Ishida
[1] T. Koeda,et al. Type C Niemann-Pick disease Detection and quantification of cholesterol-accumulating cells in bone marrow , 1993, Brain and Development.
[2] Yoshiyuki Suzuki,et al. Prenatal diagnosis of GM2-gangliosidosis Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy , 1993, Brain and Development.
[3] D. Adler,et al. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. , 1991, Genomics.
[4] R. Brady,et al. Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients , 1988, Clinical genetics.
[5] H. Morris,et al. Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature. , 1981, Archives of neurology.
[6] A. Crocker. THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE * , 1961, Journal of neurochemistry.