@article{oai:niigata-u.repo.nii.ac.jp:00024038,
 author = {保住, 功},
 issue = {7},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Jul},
 note = {Fabry's disease is an X-linked disorder of glycosphingolipid catabolism. It is uncommon for female heterozygotes to show major clinical manifestations seen in hemizygotes. We have experienced a heterozygotic patient with cardiomyopathy and severe pain in the extremities. To elucidate the difference in clinical expressions between the symptomatic heterozygote and hemizygotes, we examined the spinal and sympathetic ganglia, heart, liver and kidney histochemically and biochemically and observed the accumulation of glycolipids in these organs of the heterozygote, which was similar to the hemizygote. Quantative analyses revealed marked accumulation of ceramide trihexoside (CTH) in the heart of the heterozygote, which was in contrast to predominant accumulation of CTH and ceramide dihexoside (CDH) in the kidney of the hemizygote. Digalactosyl ceramide was shown to be predominantly accumulated in CDH fraction obtained from sympathetic ganglia of the heterozygote. The α-galactosidase activity of the heterozygote was decreased to 16-40% of normal levels in various organs, especially in the heart. Two other heterozygotic patients were identified by low α-galactosidase activity and the cardiac involvement was demonstrated, although they did not have clinically evident cardiomyopathy. The difference in phenotypic expressions between sex can not be explained and further genetic study is necessary to explain it.},
 pages = {433--442},
 title = {症候性女性Fabry病保因者の臨床的, 組織化学的, 生化学的研究 : 男性例との対比},
 volume = {101},
 year = {1987}
}