@article{oai:niigata-u.repo.nii.ac.jp:00022343,
 author = {若松, 延昭},
 issue = {4},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Apr},
 note = {A case of juvenile type Sandhoff disease presenting with mental retardation and local panatrophy was reported. In the patient, total hexosaminidase (Hex) activity of leukocytes was decreased to 17% of control, and Hex B activity was barely detectable. On Cellogel electrophoresis, majority of the residural Hex activity in the patient's leukocyte was Hex S (α, α), and Hex A (α, β) was present in a minor form. On Southern blot hybridization analysis using Hex β subunit cDNA as a probe, the patient's DNA showed identical pattern to those of normal controls. On Northern blot hybridization analysis, the amount of Hex β mRNA was markedly reduced, although the size was identical to that of control. These results suggest that the new phenotype of Sandhoff disease is caused by a small mutation in the Hex β chain gene, which leads to decreased amount of Hex β mRNA.},
 pages = {260--266},
 title = {4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)},
 volume = {104},
 year = {1990}
}